Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF NTNG1 0 genome.wustl.edu 37 1 107867388 107867388 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 107867388 107867388 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.731 p.Y244C 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 76 0 0 73 16 17.9775 VAV3 0 genome.wustl.edu 37 1 108417623 108417623 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 108417623 108417623 T C SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.221 p.N74S 1.000 pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 72 0 0 71 9 11.25 AMPD2 0 genome.wustl.edu 37 1 110168017 110168017 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 110168017 110168017 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.346 p.R116C 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 164 0 0 127 29 18.5897 KCND3 0 genome.wustl.edu 37 1 112318756 112318756 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 112318756 112318756 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known silent c.1911 p.G637 1.000 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 140 0 0 99 23 18.8525 PTCHD2 0 genome.wustl.edu 37 1 11561740 11561740 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 11561740 11561740 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.691 p.R231W 0.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 32 0 0 29 3 9.375 PTGFRN 0 genome.wustl.edu 37 1 117509774 117509774 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 117509774 117509774 C T SNP PTGFRN ENST00000393203 human ensembl 74_37 +1 known silent c.1881 p.G627 0.319 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 230 0 0 193 17 8.09524 MAN1A2 0 genome.wustl.edu 37 1 117944904 117944904 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 117944904 117944904 T C SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known silent c.399 p.I133 0.886 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 69 0 0 71 9 11.25 THEM4 0 genome.wustl.edu 37 1 151849482 151849482 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 151849482 151849482 G A SNP THEM4 ENST00000368814 human ensembl 74_37 -1 known missense c.677 p.A226V 0.692 NULL pfam_Thioestr_supf - no_errors THEM4 HGNC ENSG00000159445 200 0 0 194 33 14.5374 FLG 0 genome.wustl.edu 37 1 152283959 152283959 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 152283959 152283959 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3403 p.R1135G 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 525 2 0.379507 395 72 15.4176 FLG 0 genome.wustl.edu 37 1 152284170 152284170 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 152284170 152284170 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.3192 p.W1064* 0.000 pfam_Filaggrin,prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 888 0 0 746 151 16.8339 FLG 0 genome.wustl.edu 37 1 152284172 152284172 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 152284172 152284172 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3190 p.W1064R 0.000 pfam_Filaggrin,prints_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 898 1 0.111235 735 150 16.9492 FCRL5 0 genome.wustl.edu 37 1 157497672 157497672 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 157497672 157497672 G A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known silent c.1695 p.R565 0.933 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 111 0 0 101 15 12.931 ADAMTS4 0 genome.wustl.edu 37 1 161163166 161163166 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 161163166 161163166 C T SNP ADAMTS4 ENST00000367996 human ensembl 74_37 -1 known missense c.1748 p.R583H 1.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS4 HGNC ENSG00000158859 88 0 0 59 15 20.2703 FCGR2A 0 genome.wustl.edu 37 1 161479827 161479827 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 161479827 161479827 G A SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known silent c.582 p.T194 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 108 0 0 93 17 15.4545 ZBTB17 0 genome.wustl.edu 37 1 16268919 16268919 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 16268919 16268919 C T SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.2056 p.A686T 0.793 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 39 0 0 35 5 12.5 RASAL2 0 genome.wustl.edu 37 1 178411966 178411966 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 178411966 178411966 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.1084 p.E362K 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 131 0 0 94 11 10.4762 ARHGEF10L 0 genome.wustl.edu 37 1 17952451 17952451 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 17952451 17952451 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known nonsense c.1318 p.R440* 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 134 0 0 115 26 18.4397 QSOX1 0 genome.wustl.edu 37 1 180135652 180135652 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 180135652 180135652 G A SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known missense c.292 p.A98T 0.966 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 108 0 0 104 22 17.4603 PRG4 0 genome.wustl.edu 37 1 186280649 186280649 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 186280649 186280649 A T SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.3714 p.G1238 0.999 superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 127 0 0 135 13 8.78378 F13B 0 genome.wustl.edu 37 1 197009701 197009701 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 197009701 197009701 G A SNP F13B ENST00000367412 human ensembl 74_37 -1 known nonsense c.1903 p.Q635* 0.034 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 85 0 0 77 11 12.5 ZC3H11A 0 genome.wustl.edu 37 1 203798733 203798733 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 203798733 203798733 G A SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.453 p.T151 0.998 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 231 1 0.431034 191 18 8.61244 CR1 0 genome.wustl.edu 37 1 207737304 207737304 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 207737304 207737304 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.3682 p.P1228S 0.924 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 214 0 0 222 27 10.8434 SERTAD4 0 genome.wustl.edu 37 1 210415495 210415495 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 210415495 210415495 G A SNP SERTAD4 ENST00000367012 human ensembl 74_37 +1 known missense c.884 p.G295D 0.001 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 58 0 0 48 11 18.6441 VASH2 0 genome.wustl.edu 37 1 213146075 213146075 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 213146075 213146075 C T SNP VASH2 ENST00000517399 human ensembl 74_37 +1 known silent c.651 p.D217 1.000 NULL NULL - no_errors VASH2 HGNC ENSG00000143494 80 0 0 75 11 12.7907 HSPG2 0 genome.wustl.edu 37 1 22160079 22160079 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 22160079 22160079 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.10859 p.R3620H 0.922 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 71 0 0 55 4 6.77966 ZBTB40 0 genome.wustl.edu 37 1 22848916 22848916 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 22848916 22848916 G A SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known silent c.3258 p.T1086 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 305 1 0.326797 229 53 18.7943 RYR2 0 genome.wustl.edu 37 1 237804199 237804199 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 237804199 237804199 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7112 p.D2371G 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 35 0 0 31 3 8.82353 OR2T12 0 genome.wustl.edu 37 1 248458331 248458331 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 248458331 248458331 G A SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known missense c.550 p.R184C 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 152 0 0 139 17 10.8974 OR2T34 0 genome.wustl.edu 37 1 248737709 248737709 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 248737709 248737709 A C SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.350 p.V117G 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 54 0 0 25 8 24.2424 EXTL1 0 genome.wustl.edu 37 1 26360246 26360246 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 26360246 26360246 G A SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known silent c.1578 p.T526 0.010 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 154 0 0 104 25 19.3798 CATSPER4 0 genome.wustl.edu 37 1 26524487 26524487 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 26524487 26524487 C A SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known silent c.597 p.P199 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 174 0 0 147 34 18.7845 ARID1A 0 genome.wustl.edu 37 1 27099008 27099008 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 27099008 27099008 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3424 p.Q1142* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 97 0 0 68 9 11.6883 ARID1A 0 genome.wustl.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 27106861 27106861 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.6472 p.R2158* 1.000 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 135 0 0 112 15 11.811 FAM46B 0 genome.wustl.edu 37 1 27332693 27332693 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 27332693 27332693 G A SNP FAM46B ENST00000289166 human ensembl 74_37 -1 known silent c.1020 p.Y340 0.830 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46B HGNC ENSG00000158246 22 0 0 22 11 33.3333 TAF12 0 genome.wustl.edu 37 1 28948573 28948573 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 28948573 28948573 T C SNP TAF12 ENST00000263974 human ensembl 74_37 -1 known silent c.21 p.S7 0.998 NULL pfam_TFIID_sub,pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors TAF12 HGNC ENSG00000120656 153 0 0 126 18 12.5 NKAIN1 0 genome.wustl.edu 37 1 31655387 31655387 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 31655387 31655387 C A SNP NKAIN1 ENST00000373736 human ensembl 74_37 -1 known missense c.522 p.E174D 1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN1 HGNC ENSG00000084628 106 0 0 85 13 13.2653 BAI2 0 genome.wustl.edu 37 1 32201998 32201998 + RNA SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 32201998 32201998 G A SNP BAI2 ENST00000465256 human ensembl 74_37 -1 known rna NULL NULL 0.030 - - - no_errors BAI2 HGNC ENSG00000121753 195 0 0 166 25 13.089 RNF19B 0 genome.wustl.edu 37 1 33411121 33411121 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 33411121 33411121 T C SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.1258 p.S420G 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 107 0 0 82 18 18 CSMD2 0 genome.wustl.edu 37 1 34554619 34554619 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 34554619 34554619 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.363 p.S121 0.023 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 83 0 0 44 9 16.9811 CCDC30 0 genome.wustl.edu 37 1 43119565 43119565 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 43119565 43119565 G A SNP CCDC30 ENST00000340612 human ensembl 74_37 +1 known missense c.2218 p.A740T 0.001 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 56 0 0 55 10 15.3846 IPO13 0 genome.wustl.edu 37 1 44426892 44426892 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 44426892 44426892 T A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.2302 p.F768I 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 503 0 0 407 68 14.3158 CYP4Z1 0 genome.wustl.edu 37 1 47560306 47560306 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 47560306 47560306 C T SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.841 p.R281C 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4Z1 HGNC ENSG00000186160 81 0 0 81 13 13.8298 MYSM1 0 genome.wustl.edu 37 1 59132821 59132821 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 59132821 59132821 G T SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known silent c.1920 p.A640 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 67 0 0 51 11 17.7419 DNAJC6 0 genome.wustl.edu 37 1 65851439 65851439 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 65851439 65851439 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.845 p.R282H 0.017 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 111 0 0 84 12 12.5 WDR78 0 genome.wustl.edu 37 1 67313177 67313177 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 67313177 67313177 A G SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known silent c.1281 p.P427 0.955 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 49 0 0 48 9 15.7895 PER3 0 genome.wustl.edu 37 1 7887631 7887631 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 7887631 7887631 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.2618 p.A873V 0.003 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 279 0 0 275 25 8.33333 TNFRSF9 0 genome.wustl.edu 37 1 7995117 7995117 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 7995117 7995117 G A SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.500 p.P167L 0.103 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 76 0 0 70 10 12.5 BRDT 0 genome.wustl.edu 37 1 92457862 92457862 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 92457862 92457862 C T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known silent c.2106 p.G702 0.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 29 0 0 30 4 11.7647 ABCA4 0 genome.wustl.edu 37 1 94480241 94480241 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 94480241 94480241 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.5318 p.A1773V 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 187 0 0 142 25 14.9701 AGRN 0 genome.wustl.edu 37 1 979010 979010 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 979010 979010 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.1696 p.V566M 1.000 pfam_Kazal_dom,smart_FacI_MAC,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 110 0 0 74 16 17.7778 ENTPD7 0 genome.wustl.edu 37 10 101458568 101458568 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 101458568 101458568 C T SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1288 p.R430C 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 77 0 0 68 12 15 SUFU 0 genome.wustl.edu 37 10 104264032 104264032 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 104264032 104264032 C T SNP SUFU ENST00000369902 human ensembl 74_37 +1 known silent c.123 p.C41 1.000 pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 63 0 0 32 5 13.5135 WDR37 0 genome.wustl.edu 37 10 1170951 1170951 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 1170951 1170951 G A SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known missense c.1340 p.R447Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 50 0 0 41 10 19.6078 WDR11 0 genome.wustl.edu 37 10 122625206 122625206 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 122625206 122625206 G A SNP WDR11 ENST00000263461 human ensembl 74_37 +1 known missense c.944 p.R315H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 55 0 0 55 8 12.6984 HMX2 0 genome.wustl.edu 37 10 124908090 124908090 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 124908090 124908090 T G SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known missense c.196 p.F66V 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 58 0 0 34 8 19.0476 BUB3 0 genome.wustl.edu 37 10 124921806 124921806 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 124921806 124921806 A C SNP BUB3 ENST00000368865 human ensembl 74_37 +1 known missense c.631 p.S211R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BUB3 HGNC ENSG00000154473 326 0 0 338 27 7.39726 ITGA8 0 genome.wustl.edu 37 10 15726071 15726071 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 15726071 15726071 G T SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.500 p.P167Q 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 78 0 0 66 14 17.5 CUBN 0 genome.wustl.edu 37 10 16867001 16867001 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 16867001 16867001 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.10845 p.S3615 0.991 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 70 0 0 51 7 12.069 CUBN 0 genome.wustl.edu 37 10 16911739 16911739 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 16911739 16911739 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9350 p.R3117H 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 237 0 0 220 22 9.09091 ARMC3 0 genome.wustl.edu 37 10 23244766 23244766 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 23244766 23244766 T G SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.197 p.L66R 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 68 0 0 56 9 13.8462 MPP7 0 genome.wustl.edu 37 10 28378673 28378673 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 28378673 28378673 G A SNP MPP7 ENST00000337532 human ensembl 74_37 -1 known silent c.1050 p.D350 0.996 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_SH3_domain - no_errors MPP7 HGNC ENSG00000150054 183 0 0 181 42 18.8341 NRP1 0 genome.wustl.edu 37 10 33475246 33475246 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 33475246 33475246 G A SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.2233 p.P745S 0.997 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 83 0 0 75 4 5.06329 DIP2C 0 genome.wustl.edu 37 10 435950 435950 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 435950 435950 C A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.1578 p.Q526H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 109 0 0 68 18 20.9302 ZNF32 0 genome.wustl.edu 37 10 44139887 44139887 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 44139887 44139887 G A SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known nonsense c.433 p.R145* 0.147 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 103 0 0 91 17 15.7407 AGAP10 0 genome.wustl.edu 37 10 47207813 47207813 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 47207813 47207813 T C SNP AGAP10 ENST00000413193 human ensembl 74_37 -1 known missense c.683 p.H228R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP10 HGNC ENSG00000204172 41 0 0 32 3 8.57143 GDF2 0 genome.wustl.edu 37 10 48416403 48416403 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 48416403 48416403 C T SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.291 p.T97 0.086 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 98 0 0 75 20 21.0526 TBATA 0 genome.wustl.edu 37 10 72538305 72538305 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 72538305 72538305 G A SNP TBATA ENST00000545575 human ensembl 74_37 -1 known missense c.482 p.A161V 0.000 NULL NULL - no_errors TBATA HGNC ENSG00000166220 260 0 0 264 18 6.38298 TAF3 0 genome.wustl.edu 37 10 8055710 8055710 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 8055710 8055710 G A SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.2585 p.G862D 1.000 superfamily_Znf_FYVE_PHD pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 173 0 0 134 13 8.84354 LRIT2 0 genome.wustl.edu 37 10 85981787 85981787 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 85981787 85981787 C T SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known silent c.1572 p.P524 0.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT2 HGNC ENSG00000204033 176 1 0.564972 149 26 14.8571 WAPAL 0 genome.wustl.edu 37 10 88230820 88230820 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 88230820 88230820 G A SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known nonsense c.2071 p.R691* 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 94 0 0 93 14 13.0841 IFIT5 0 genome.wustl.edu 37 10 91178194 91178194 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 91178194 91178194 G A SNP IFIT5 ENST00000371795 human ensembl 74_37 +1 known missense c.1238 p.R413H 0.006 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT5 HGNC ENSG00000152778 56 0 0 48 3 5.88235 CYP2C18 0 genome.wustl.edu 37 10 96484237 96484237 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 96484237 96484237 C A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1096 p.L366M 0.013 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 203 0 0 217 31 12.5 C10orf12 0 genome.wustl.edu 37 10 98742860 98742860 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 98742860 98742860 G T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.1713 p.E571D 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 109 0 0 81 11 11.9565 MSANTD4 0 genome.wustl.edu 37 11 105880396 105880396 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 105880396 105880396 G A SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known nonsense c.904 p.R302* 0.997 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 180 0 0 171 12 6.55738 ATM 0 genome.wustl.edu 37 11 108164110 108164110 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 108164110 108164110 T C SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4682 p.L1561P 0.135 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 122 0 0 104 23 18.1102 PHLDB1 0 genome.wustl.edu 37 11 118516454 118516454 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 118516454 118516454 G A SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.3418 p.A1140T 0.004 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 156 0 0 130 18 12.1622 POU2F3 0 genome.wustl.edu 37 11 120176450 120176450 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 120176450 120176450 T C SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known missense c.731 p.M244T 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 132 0 0 90 22 19.6429 GRIK4 0 genome.wustl.edu 37 11 120833350 120833350 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 120833350 120833350 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.2226 p.G742 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 128 0 0 89 9 9.18367 TECTA 0 genome.wustl.edu 37 11 120976660 120976660 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 120976660 120976660 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.185 p.Y62C 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 306 0 0 266 30 10.1351 SORL1 0 genome.wustl.edu 37 11 121448108 121448108 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 121448108 121448108 C T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known silent c.3579 p.T1193 0.030 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 180 0 0 120 16 11.7647 OR8G1 0 genome.wustl.edu 37 11 124120777 124120777 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 124120777 124120777 G A SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.355 p.A119T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 209 0 0 196 37 15.8798 KIRREL3 0 genome.wustl.edu 37 11 126294613 126294613 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 126294613 126294613 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.2199 p.S733 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 147 0 0 91 14 13.3333 MUC5B 0 genome.wustl.edu 37 11 1267503 1267503 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 1267503 1267503 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.9402 p.T3134 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 243 0 0 173 26 13.0653 MUC5B 0 genome.wustl.edu 37 11 1281874 1281874 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 1281874 1281874 T A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.16994 p.I5665N 0.000 smart_Cys_knot_C,pfscan_Cys_knot_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 33 0 0 34 2 5.55556 ARNTL 0 genome.wustl.edu 37 11 13393740 13393740 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 13393740 13393740 G T SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known missense c.851 p.S284I 1.000 prints_Nuc_translocat pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 147 0 0 146 28 16.092 ACAD8 0 genome.wustl.edu 37 11 134131749 134131749 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 134131749 134131749 A G SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known missense c.1057 p.M353V 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 50 0 0 49 4 7.54717 PIK3C2A 0 genome.wustl.edu 37 11 17190440 17190440 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 17190440 17190440 A G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.849 p.N283 0.988 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 105 0 0 107 12 10.084 ENSG00000189332 0 genome.wustl.edu 37 11 18231374 18231374 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 18231374 18231374 G A SNP ENSG00000189332 ENST00000340135 human ensembl 74_37 +1 novel missense c.160 p.A54T 0.828 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors RP11-113D6.10 Clone_based_vega_gene ENSG00000189332 117 0 0 91 11 10.7843 E2F8 0 genome.wustl.edu 37 11 19251862 19251862 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 19251862 19251862 C A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.1284 p.Q428H 0.989 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 93 0 0 91 12 11.6505 NELL1 0 genome.wustl.edu 37 11 20907060 20907060 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 20907060 20907060 C T SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.577 p.R193C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 64 0 0 58 14 19.4444 SLC17A6 0 genome.wustl.edu 37 11 22387116 22387116 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 22387116 22387116 A G SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.772 p.M258V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 135 0 0 108 14 11.4754 TRPM5 0 genome.wustl.edu 37 11 2428999 2428999 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 2428999 2428999 C T SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.2932 p.A978T 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 119 0 0 88 11 11.1111 NAT10 0 genome.wustl.edu 37 11 34133754 34133754 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 34133754 34133754 G C SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.356 p.G119A 1.000 pfam_DUF1726 pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 98 0 0 70 14 16.6667 TRAF6 0 genome.wustl.edu 37 11 36520142 36520142 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 36520142 36520142 A T SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.345 p.N115K 0.945 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 66 0 0 75 4 5.06329 B4GALNT4 0 genome.wustl.edu 37 11 373264 373264 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 373264 373264 T C SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known silent c.609 p.A203 0.075 pfam_PA14,smart_PA14 pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 42 0 0 48 7 12.7273 OR52I2 0 genome.wustl.edu 37 11 4608096 4608096 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 4608096 4608096 T C SNP OR52I2 ENST00000312614 human ensembl 74_37 +1 known silent c.54 p.I18 0.161 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I2 HGNC ENSG00000226288 129 0 0 113 16 12.4031 OR51F2 0 genome.wustl.edu 37 11 4843262 4843262 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 4843262 4843262 C T SNP OR51F2 ENST00000322110 human ensembl 74_37 +1 known missense c.647 p.A216V 0.989 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51F2 HGNC ENSG00000176925 164 0 0 142 26 15.4762 UBQLN3 0 genome.wustl.edu 37 11 5529610 5529610 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 5529610 5529610 G A SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1179 p.G393 0.325 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 242 0 0 205 12 5.52995 MED19 0 genome.wustl.edu 37 11 57472562 57472562 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 57472562 57472562 A G SNP MED19 ENST00000431606 human ensembl 74_37 -1 known silent c.357 p.P119 0.994 pfam_Mediator_Med19_met pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 107 0 0 88 12 12 TMEM132A 0 genome.wustl.edu 37 11 60697990 60697990 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 60697990 60697990 T C SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.875 p.V292A 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 298 1 0.334448 239 38 13.7184 DDB1 0 genome.wustl.edu 37 11 61071397 61071397 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 61071397 61071397 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.2772 p.G924 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 150 0 0 128 8 5.88235 FLRT1 0 genome.wustl.edu 37 11 63884259 63884259 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 63884259 63884259 G A SNP FLRT1 ENST00000246841 human ensembl 74_37 +1 known missense c.520 p.A174T 0.913 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT1 HGNC ENSG00000126500 47 0 0 40 10 20 NRXN2 0 genome.wustl.edu 37 11 64428414 64428414 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 64428414 64428414 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1996 p.R666C 0.497 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 62 0 0 56 10 15.1515 TIGD3 0 genome.wustl.edu 37 11 65124144 65124144 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 65124144 65124144 G A SNP TIGD3 ENST00000309880 human ensembl 74_37 +1 known missense c.865 p.A289T 0.000 pfam_DDE_SF_endonuclease_CENPB-like pfam_HTH_CenpB_DNA-bd_dom,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD3 HGNC ENSG00000173825 85 0 0 59 10 14.4928 EFEMP2 0 genome.wustl.edu 37 11 65637592 65637592 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 65637592 65637592 C T SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known missense c.607 p.D203N 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 75 0 0 47 6 11.3208 CATSPER1 0 genome.wustl.edu 37 11 65788644 65788644 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 65788644 65788644 G A SNP CATSPER1 ENST00000312106 human ensembl 74_37 -1 known silent c.1704 p.S568 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER1 HGNC ENSG00000175294 37 0 0 29 2 6.45161 RCE1 0 genome.wustl.edu 37 11 66613485 66613485 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 66613485 66613485 G A SNP RCE1 ENST00000309657 human ensembl 74_37 +1 known silent c.909 p.T303 0.970 NULL pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 178 0 0 133 24 15.2866 RHOD 0 genome.wustl.edu 37 11 66838974 66838974 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 66838974 66838974 C T SNP RHOD ENST00000308831 human ensembl 74_37 +1 known silent c.534 p.N178 0.340 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOD HGNC ENSG00000173156 51 0 0 31 7 18.4211 CARNS1 0 genome.wustl.edu 37 11 67187277 67187277 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 67187277 67187277 C T SNP CARNS1 ENST00000445895 human ensembl 74_37 +1 known missense c.1081 p.R361W 0.998 NULL superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp - no_errors CARNS1 HGNC ENSG00000172508 13 0 0 3 4 57.1429 OR2AG1 0 genome.wustl.edu 37 11 6806831 6806831 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 6806831 6806831 C T SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known missense c.563 p.A188V 0.693 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 106 0 0 111 6 5.12821 ZNF214 0 genome.wustl.edu 37 11 7021534 7021534 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 7021534 7021534 A G SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known silent c.1380 p.H460 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF214 HGNC ENSG00000149050 137 0 0 129 21 14 FOLH1B 0 genome.wustl.edu 37 11 89424639 89424639 + RNA SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 89424639 89424639 A C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FOLH1B HGNC ENSG00000134612 65 0 0 69 12 14.8148 ANKS1B 0 genome.wustl.edu 37 12 100200253 100200253 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 100200253 100200253 G A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.598 p.L200F 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 77 0 0 57 4 6.55738 WNK1 0 genome.wustl.edu 37 12 1005427 1005427 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 1005427 1005427 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7268 p.A2423V 0.177 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 99 0 0 68 18 20.9302 FICD 0 genome.wustl.edu 37 12 108912784 108912784 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 108912784 108912784 C T SNP FICD ENST00000552695 human ensembl 74_37 +1 known silent c.909 p.P303 0.008 pfam_Fido,superfamily_Fido pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 58 0 0 49 7 12.5 TPCN1 0 genome.wustl.edu 37 12 113733856 113733856 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 113733856 113733856 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2642 p.R881H 1.000 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 83 0 0 84 8 8.69565 RPLP0 0 genome.wustl.edu 37 12 120636391 120636391 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 120636391 120636391 A G SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known missense c.617 p.I206T 1.000 NULL pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 88 0 0 70 11 13.5802 GPRC5A 0 genome.wustl.edu 37 12 13065520 13065520 + RNA SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 13065520 13065520 C T SNP GPRC5A ENST00000542056 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPRC5A HGNC ENSG00000013588 70 0 0 44 11 20 GPR133 0 genome.wustl.edu 37 12 131476867 131476867 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 131476867 131476867 A G SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.896 p.Y299C 0.968 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 208 0 0 188 12 6 POLE 0 genome.wustl.edu 37 12 133254218 133254218 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 133254218 133254218 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.666 p.R222 0.950 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 60 0 0 45 5 10 GOLT1B 0 genome.wustl.edu 37 12 21665273 21665273 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 21665273 21665273 T C SNP GOLT1B ENST00000229314 human ensembl 74_37 +1 known missense c.341 p.V114A 1.000 pfam_Vesicle_transpt_Got1/SFT2 pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1B HGNC ENSG00000111711 226 1 0.440529 219 28 11.336 ABCC9 0 genome.wustl.edu 37 12 22035726 22035726 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 22035726 22035726 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.1993 p.A665T 0.000 superfamily_P-loop_NTPase pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 150 0 0 132 23 14.8387 KRAS 0 genome.wustl.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 25398285 25398285 C A SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.34 p.G12C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 27 0 0 17 4 19.0476 ITPR2 0 genome.wustl.edu 37 12 26784907 26784907 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 26784907 26784907 G A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.2826 p.S942 0.206 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 196 0 0 178 29 14.0097 ITPR2 0 genome.wustl.edu 37 12 26839488 26839488 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 26839488 26839488 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known silent c.1074 p.P358 0.280 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 141 0 0 138 22 13.75 MED21 0 genome.wustl.edu 37 12 27181274 27181274 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 27181274 27181274 G T SNP MED21 ENST00000282892 human ensembl 74_37 +1 known missense c.315 p.E105D 1.000 pfam_Mediator_Med21 pfam_Mediator_Med21 - no_errors MED21 HGNC ENSG00000152944 206 0 0 188 28 12.963 SYT10 0 genome.wustl.edu 37 12 33579288 33579288 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 33579288 33579288 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.294 p.Q98 0.875 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 87 0 0 68 9 11.6883 LRRK2 0 genome.wustl.edu 37 12 40672043 40672043 + Nonsense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 40672043 40672043 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known nonsense c.2221 p.G741* 0.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 137 0 0 120 22 15.493 PDZRN4 0 genome.wustl.edu 37 12 41967251 41967251 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 41967251 41967251 G A SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.2670 p.K890 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 152 1 0.653595 135 13 8.78378 GXYLT1 0 genome.wustl.edu 37 12 42491296 42491296 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 42491296 42491296 T C SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known missense c.1109 p.Y370C 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 185 0 0 168 21 11.1111 ARID2 0 genome.wustl.edu 37 12 46246350 46246350 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 46246350 46246350 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known nonsense c.4444 p.Q1482* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 169 0 0 143 17 10.625 CCNT1 0 genome.wustl.edu 37 12 49087792 49087792 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 49087792 49087792 G A SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.1205 p.A402V 0.998 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 376 0 0 323 62 16.1039 PRPF40B 0 genome.wustl.edu 37 12 50029022 50029022 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 50029022 50029022 G A SNP PRPF40B ENST00000548825 human ensembl 74_37 +1 known missense c.1142 p.R381H 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 104 0 0 72 13 15.2941 KRT1 0 genome.wustl.edu 37 12 53069130 53069130 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 53069130 53069130 G A SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known silent c.1782 p.G594 0.027 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 45 0 0 38 8 17.3913 NTF3 0 genome.wustl.edu 37 12 5603459 5603459 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 5603459 5603459 C T SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known missense c.118 p.P40S 1.000 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 111 0 0 95 15 13.6364 NTF3 0 genome.wustl.edu 37 12 5603725 5603725 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 5603725 5603725 G A SNP NTF3 ENST00000423158 human ensembl 74_37 +1 known silent c.384 p.P128 0.119 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 - no_errors NTF3 HGNC ENSG00000185652 122 0 0 102 9 8.10811 AVPR1A 0 genome.wustl.edu 37 12 63544484 63544484 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 63544484 63544484 C T SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known missense c.133 p.V45M 0.174 prints_Vprs_V1A_rcpt pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 84 0 0 54 10 15.625 XPOT 0 genome.wustl.edu 37 12 64812728 64812728 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 64812728 64812728 A G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known missense c.343 p.T115A 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 128 1 0.775194 109 6 5.21739 XPOT 0 genome.wustl.edu 37 12 64812733 64812733 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 64812733 64812733 G A SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.348 p.E116 0.939 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 129 1 0.769231 114 6 5 LEMD3 0 genome.wustl.edu 37 12 65609822 65609822 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 65609822 65609822 A G SNP LEMD3 ENST00000308330 human ensembl 74_37 +1 known silent c.1626 p.A542 1.000 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD3 HGNC ENSG00000174106 80 0 0 67 7 9.45946 CD4 0 genome.wustl.edu 37 12 6925311 6925311 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 6925311 6925311 A T SNP CD4 ENST00000011653 human ensembl 74_37 +1 known missense c.697 p.T233S 0.070 pfam_CD4-extracel,smart_Ig_sub pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 176 0 0 156 34 17.8947 CD163L1 0 genome.wustl.edu 37 12 7531592 7531592 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 7531592 7531592 C T SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.2353 p.A785T 0.993 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 124 0 0 143 9 5.92105 SLC2A14 0 genome.wustl.edu 37 12 7981304 7981304 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 7981304 7981304 C T SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known silent c.741 p.T247 0.000 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 123 0 0 93 22 19.1304 ELK3 0 genome.wustl.edu 37 12 96641453 96641453 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 96641453 96641453 G A SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known missense c.943 p.A315T 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 26 0 0 16 6 27.2727 KDELC1 0 genome.wustl.edu 37 13 103443452 103443452 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 103443452 103443452 C T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known silent c.882 p.T294 0.192 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 135 0 0 120 14 10.4478 F7 0 genome.wustl.edu 37 13 113771902 113771902 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 113771902 113771902 C T SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.797 p.A266V 0.007 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 194 0 0 165 27 14.0625 KL 0 genome.wustl.edu 37 13 33591184 33591184 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 33591184 33591184 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.606 p.D202 0.863 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 21 0 0 22 4 15.3846 ENOX1 0 genome.wustl.edu 37 13 43918697 43918697 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 43918697 43918697 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.1013 p.A338V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 120 0 0 94 6 6 RNF219 0 genome.wustl.edu 37 13 79191059 79191059 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 79191059 79191059 G A SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known silent c.837 p.G279 0.865 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 139 0 0 109 17 13.4921 DOCK9 0 genome.wustl.edu 37 13 99449686 99449686 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 99449686 99449686 G A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known nonsense c.5977 p.R1993* 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 42 0 0 36 9 20 CEP170B 0 genome.wustl.edu 37 14 105349144 105349144 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 105349144 105349144 C A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.552 p.A184 0.978 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 49 0 0 25 5 16.6667 AHNAK2 0 genome.wustl.edu 37 14 105411774 105411774 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 105411774 105411774 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.10014 p.A3338 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 406 0 0 331 42 11.2601 LRRC16B 0 genome.wustl.edu 37 14 24532580 24532580 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 24532580 24532580 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.2817 p.I939 0.980 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 96 0 0 84 18 17.6471 RALGAPA1 0 genome.wustl.edu 37 14 36159176 36159176 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 36159176 36159176 G A SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.2441 p.T814I 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 107 0 0 109 15 12.0968 RALGAPA1 0 genome.wustl.edu 37 14 36194349 36194349 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 36194349 36194349 G A SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known silent c.1747 p.L583 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 104 0 0 90 9 9.09091 TTC6 0 genome.wustl.edu 37 14 38296552 38296552 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 38296552 38296552 A G SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known missense c.1472 p.H491R 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 246 0 0 225 16 6.639 SSTR1 0 genome.wustl.edu 37 14 38679601 38679601 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 38679601 38679601 G A SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known missense c.1007 p.R336H 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 113 0 0 149 12 7.45342 SYNE2 0 genome.wustl.edu 37 14 64630227 64630227 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 64630227 64630227 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.16407 p.P5469 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 112 0 0 90 21 18.9189 SIPA1L1 0 genome.wustl.edu 37 14 72054698 72054698 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 72054698 72054698 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.109 p.R37W 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 172 0 0 157 34 17.801 RGS6 0 genome.wustl.edu 37 14 73029132 73029132 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 73029132 73029132 C T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1430 p.S477L 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 77 0 0 55 7 11.2903 PAPLN 0 genome.wustl.edu 37 14 73718470 73718470 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 73718470 73718470 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.769 p.R257W 0.997 pfam_ADAM_spacer1 pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 73 0 0 82 19 18.8119 ELMSAN1 0 genome.wustl.edu 37 14 74205491 74205491 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 74205491 74205491 C T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.1221 p.S407 0.001 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 34 0 0 28 8 22.2222 TMED8 0 genome.wustl.edu 37 14 77808279 77808279 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 77808279 77808279 A T SNP TMED8 ENST00000216468 human ensembl 74_37 -1 known silent c.813 p.G271 0.642 superfamily_GOLD,pfscan_GOLD superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 64 0 0 54 12 18.1818 FAM181A 0 genome.wustl.edu 37 14 94395003 94395003 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 14 94395003 94395003 G A SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known silent c.558 p.Q186 0.956 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 60 0 0 52 9 14.7541 RYR3 0 genome.wustl.edu 37 15 33873841 33873841 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 33873841 33873841 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1570 p.L524 0.989 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 134 0 0 124 10 7.46269 MGA 0 genome.wustl.edu 37 15 42005615 42005615 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 42005615 42005615 G T SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.3351 p.E1117D 0.258 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 13 0 0 10 5 33.3333 TP53BP1 0 genome.wustl.edu 37 15 43714236 43714236 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 43714236 43714236 T G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.3917 p.D1306A 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 136 0 0 96 27 21.9512 FGF7 0 genome.wustl.edu 37 15 49776672 49776672 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 49776672 49776672 G A SNP FGF7 ENST00000267843 human ensembl 74_37 +1 known missense c.556 p.A186T 0.981 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 25 0 0 20 6 23.0769 CYP19A1 0 genome.wustl.edu 37 15 51514616 51514616 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 51514616 51514616 G A SNP CYP19A1 ENST00000260433 human ensembl 74_37 -1 known silent c.558 p.D186 0.992 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 83 0 0 84 9 9.67742 TLN2 0 genome.wustl.edu 37 15 63040619 63040619 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 63040619 63040619 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.4095 p.C1365 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 129 0 0 124 10 7.46269 TLN2 0 genome.wustl.edu 37 15 63069014 63069014 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 63069014 63069014 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5419 p.A1807T 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 79 0 0 70 6 7.89474 CILP 0 genome.wustl.edu 37 15 65489719 65489719 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 65489719 65489719 G A SNP CILP ENST00000261883 human ensembl 74_37 -1 known nonsense c.2905 p.R969* 0.995 NULL pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP HGNC ENSG00000138615 121 0 0 89 23 20.5357 VWA9 0 genome.wustl.edu 37 15 65871779 65871779 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 65871779 65871779 C T SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known silent c.1632 p.T544 0.969 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 142 0 0 150 25 14.2857 VWA9 0 genome.wustl.edu 37 15 65891302 65891302 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 65891302 65891302 G A SNP VWA9 ENST00000569004 human ensembl 74_37 -1 known missense c.449 p.A150V 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 66 0 0 65 15 18.75 FEM1B 0 genome.wustl.edu 37 15 68582994 68582994 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 68582994 68582994 T C SNP FEM1B ENST00000306917 human ensembl 74_37 +1 known missense c.1298 p.V433A 0.042 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1B HGNC ENSG00000169018 83 0 0 91 22 19.469 THSD4 0 genome.wustl.edu 37 15 72020961 72020961 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 72020961 72020961 C T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.1431 p.G477 0.003 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 192 0 0 176 22 11.1111 GOLGA6B 0 genome.wustl.edu 37 15 72956779 72956779 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 72956779 72956779 G A SNP GOLGA6B ENST00000421285 human ensembl 74_37 +1 known silent c.1428 p.E476 0.999 NULL NULL - no_errors GOLGA6B HGNC ENSG00000215186 61 0 0 63 5 7.35294 PML 0 genome.wustl.edu 37 15 74315644 74315644 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 74315644 74315644 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.1078 p.R360C 0.233 pfam_DUF3583 pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 58 0 0 41 11 21.1538 AKAP13 0 genome.wustl.edu 37 15 86261259 86261259 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 86261259 86261259 A G SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.5882 p.E1961G 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 72 0 0 58 7 10.7692 HAPLN3 0 genome.wustl.edu 37 15 89424594 89424594 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 89424594 89424594 G T SNP HAPLN3 ENST00000359595 human ensembl 74_37 -1 known missense c.487 p.L163M 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN3 HGNC ENSG00000140511 113 0 0 105 9 7.89474 TICRR 0 genome.wustl.edu 37 15 90125982 90125982 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 90125982 90125982 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.720 p.G240 0.035 NULL NULL - no_errors TICRR HGNC ENSG00000140534 142 0 0 118 19 13.8686 MAN2A2 0 genome.wustl.edu 37 15 91454123 91454123 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 91454123 91454123 G T SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.1807 p.A603S 0.999 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 98 0 0 72 14 16.2791 CPPED1 0 genome.wustl.edu 37 16 12875064 12875064 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 12875064 12875064 G A SNP CPPED1 ENST00000381774 human ensembl 74_37 -1 known silent c.267 p.G89 0.980 pfam_PEstase_dom pfam_PEstase_dom - no_errors CPPED1 HGNC ENSG00000103381 31 0 0 22 8 26.6667 VWA3A 0 genome.wustl.edu 37 16 22144335 22144335 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 22144335 22144335 G A SNP VWA3A ENST00000389398 human ensembl 74_37 +1 known missense c.1987 p.A663T 0.999 NULL pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3A HGNC ENSG00000175267 52 0 0 27 8 22.8571 TNRC6A 0 genome.wustl.edu 37 16 24802619 24802619 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 24802619 24802619 G A SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.2656 p.G886S 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 70 0 0 60 13 17.8082 ARHGAP17 0 genome.wustl.edu 37 16 24946807 24946807 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 24946807 24946807 C T SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known silent c.1878 p.P626 0.971 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 27 0 0 19 4 17.3913 CCNF 0 genome.wustl.edu 37 16 2499405 2499405 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 2499405 2499405 C T SNP CCNF ENST00000397066 human ensembl 74_37 +1 known silent c.1341 p.Y447 0.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,pfam_F-box_dom,superfamily_Cyclin-like,superfamily_F-box_dom,smart_F-box_dom,smart_Cyclin-like,pfscan_F-box_dom - no_errors CCNF HGNC ENSG00000162063 76 0 0 73 12 14.1176 ZNF629 0 genome.wustl.edu 37 16 30794465 30794465 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 30794465 30794465 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.1184 p.T395M 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 49 0 0 49 9 15.5172 C16orf98 0 genome.wustl.edu 37 16 31214142 31214142 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 31214142 31214142 T C SNP C16orf98 ENST00000561916 human ensembl 74_37 +1 putative missense c.368 p.V123A 0.000 NULL NULL - no_errors C16orf98 HGNC ENSG00000261359 8 0 0 13 4 23.5294 N4BP1 0 genome.wustl.edu 37 16 48594880 48594880 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 48594880 48594880 G A SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known silent c.1674 p.C558 0.029 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 190 0 0 171 25 12.7551 CBLN1 0 genome.wustl.edu 37 16 49315161 49315161 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 49315161 49315161 G A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known silent c.216 p.H72 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 101 0 0 69 7 9.21053 CHD9 0 genome.wustl.edu 37 16 53191220 53191220 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 53191220 53191220 G A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.1219 p.E407K 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 26 0 0 26 10 27.7778 C16orf80 0 genome.wustl.edu 37 16 58149340 58149340 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 58149340 58149340 G A SNP C16orf80 ENST00000262498 human ensembl 74_37 -1 known missense c.298 p.R100C 1.000 pfam_DUF667 pfam_DUF667 - no_errors C16orf80 HGNC ENSG00000070761 76 0 0 63 5 7.35294 DPEP3 0 genome.wustl.edu 37 16 68013621 68013621 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 68013621 68013621 A G SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known missense c.410 p.L137P 0.990 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 54 0 0 37 6 13.9535 DUS2 0 genome.wustl.edu 37 16 68110548 68110548 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 68110548 68110548 G A SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.1096 p.A366T 0.996 NULL pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 105 0 0 100 21 17.3554 PLA2G15 0 genome.wustl.edu 37 16 68283238 68283238 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 68283238 68283238 C A SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.173 p.P58Q 1.000 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 63 0 0 73 5 6.41026 WWP2 0 genome.wustl.edu 37 16 69964094 69964094 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 69964094 69964094 C T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known nonsense c.1378 p.R460* 1.000 pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 71 0 0 49 19 27.9412 MTSS1L 0 genome.wustl.edu 37 16 70708342 70708342 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 70708342 70708342 T C SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.920 p.Y307C 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 56 0 0 44 6 12 PMFBP1 0 genome.wustl.edu 37 16 72158677 72158677 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 72158677 72158677 C T SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.2593 p.D865N 0.166 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 129 0 0 109 21 16.1538 RPUSD1 0 genome.wustl.edu 37 16 836929 836929 + Splice_Site SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 836929 836929 C A SNP RPUSD1 ENST00000007264 human ensembl 74_37 -1 known splice_site c.410-1 e4-1 1.000 - - - no_errors RPUSD1 HGNC ENSG00000007376 98 0 0 73 10 12.0482 MLYCD 0 genome.wustl.edu 37 16 83933108 83933108 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 83933108 83933108 C T SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.359 p.A120V 1.000 NULL pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 27 0 0 14 4 22.2222 SLC38A8 0 genome.wustl.edu 37 16 84050219 84050219 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 84050219 84050219 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.1067 p.T356I 0.002 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 83 0 0 59 10 14.4928 ATP2C2 0 genome.wustl.edu 37 16 84485577 84485577 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 84485577 84485577 C A SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known missense c.1711 p.L571I 0.997 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 178 0 0 166 25 13.089 CDRT15 0 genome.wustl.edu 37 17 14139301 14139301 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 14139301 14139301 G A SNP CDRT15 ENST00000420162 human ensembl 74_37 -1 known silent c.439 p.L147 0.048 NULL NULL - no_errors CDRT15 HGNC ENSG00000223510 34 0 0 29 4 12.1212 RPA1 0 genome.wustl.edu 37 17 1783866 1783866 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 1783866 1783866 C T SNP RPA1 ENST00000254719 human ensembl 74_37 +1 known silent c.1122 p.P374 0.252 superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 91 0 0 71 17 19.3182 SSH2 0 genome.wustl.edu 37 17 27958581 27958581 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 27958581 27958581 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.3550 p.A1184T 0.369 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 180 1 0.552486 144 22 13.253 ASIC2 0 genome.wustl.edu 37 17 31618768 31618768 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 31618768 31618768 G A SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known silent c.366 p.R122 1.000 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 62 0 0 40 10 20 CCL23 0 genome.wustl.edu 37 17 34340329 34340329 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 34340329 34340329 G A SNP CCL23 ENST00000293280 human ensembl 74_37 -1 known nonsense c.322 p.R108* 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL23 HGNC ENSG00000167236 54 0 0 31 5 13.8889 ERBB2 0 genome.wustl.edu 37 17 37879658 37879658 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 37879658 37879658 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2033 p.R678Q 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 126 0 0 88 13 12.8713 SOST 0 genome.wustl.edu 37 17 41832889 41832889 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 41832889 41832889 G A SNP SOST ENST00000301691 human ensembl 74_37 -1 known missense c.463 p.R155C 0.907 pfam_Sclerostin/SOSTDC1,pfam_DAN,smart_Cys_knot_C pfam_Sclerostin/SOSTDC1,pfam_DAN,smart_Cys_knot_C - no_errors SOST HGNC ENSG00000167941 49 0 0 33 4 10.8108 HOXB9 0 genome.wustl.edu 37 17 46703515 46703515 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 46703515 46703515 C T SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known silent c.117 p.P39 0.998 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 44 0 0 29 5 14.7059 MYCBPAP 0 genome.wustl.edu 37 17 48603504 48603504 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 48603504 48603504 G A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.2174 p.R725Q 0.001 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 143 0 0 117 17 12.6866 PITPNM3 0 genome.wustl.edu 37 17 6376029 6376029 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 6376029 6376029 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.1377 p.S459 0.999 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 40 0 0 31 6 16.2162 DNAH2 0 genome.wustl.edu 37 17 7707688 7707688 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 7707688 7707688 G T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.9087 p.E3029D 0.992 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 85 0 0 80 13 13.9785 KDM6B 0 genome.wustl.edu 37 17 7753402 7753402 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 7753402 7753402 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.3580 p.R1194W 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 61 0 0 56 6 9.67742 ARHGEF15 0 genome.wustl.edu 37 17 8216372 8216372 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 8216372 8216372 G A SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.734 p.R245Q 0.123 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 165 0 0 135 34 20.1183 ARHGEF15 0 genome.wustl.edu 37 17 8218457 8218457 + Silent SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 8218457 8218457 T G SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known silent c.1122 p.P374 0.086 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 58 0 0 54 8 12.9032 MFSD6L 0 genome.wustl.edu 37 17 8701217 8701217 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 8701217 8701217 C T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.1222 p.A408T 0.068 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 209 0 0 137 13 8.66667 FAM210A 0 genome.wustl.edu 37 18 13671878 13671878 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 13671878 13671878 C T SNP FAM210A ENST00000322247 human ensembl 74_37 -1 known missense c.568 p.A190T 1.000 pfam_DUF1279 pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 99 0 0 108 12 10 KCTD1 0 genome.wustl.edu 37 18 24035755 24035755 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 24035755 24035755 C T SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known silent c.2550 p.T850 0.497 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 145 0 0 122 10 7.57576 CDH2 0 genome.wustl.edu 37 18 25572682 25572682 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 25572682 25572682 A G SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.1281 p.P427 0.040 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 120 0 0 110 14 11.2903 CCDC178 0 genome.wustl.edu 37 18 30554568 30554568 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 30554568 30554568 C T SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known silent c.2538 p.R846 0.987 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 79 0 0 77 20 20.6186 SLC14A2 0 genome.wustl.edu 37 18 43262295 43262295 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 43262295 43262295 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.2574 p.P858 0.003 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 462 0 0 408 28 6.42202 DOK6 0 genome.wustl.edu 37 18 67425047 67425047 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 67425047 67425047 G A SNP DOK6 ENST00000382713 human ensembl 74_37 +1 known missense c.794 p.R265H 0.997 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK6 HGNC ENSG00000206052 106 0 0 105 11 9.48276 GALR1 0 genome.wustl.edu 37 18 74963015 74963015 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 74963015 74963015 G A SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.511 p.A171T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 82 0 0 60 12 16.6667 SALL3 0 genome.wustl.edu 37 18 76757125 76757125 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 18 76757125 76757125 G A SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3706 p.G1236S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 186 0 0 172 23 11.7949 LPPR2 0 genome.wustl.edu 37 19 11468409 11468409 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 11468409 11468409 C T SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known silent c.60 p.F20 0.989 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 56 0 0 37 11 22.9167 CIB3 0 genome.wustl.edu 37 19 16284237 16284237 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 16284237 16284237 T C SNP CIB3 ENST00000269878 human ensembl 74_37 -1 known missense c.50 p.Q17R 1.000 NULL pfscan_EF_hand_dom - no_errors CIB3 HGNC ENSG00000141977 116 0 0 137 14 9.27152 PIK3R2 0 genome.wustl.edu 37 19 18273240 18273240 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 18273240 18273240 C T SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1033 p.R345W 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 52 0 0 45 5 10 NCAN 0 genome.wustl.edu 37 19 19337381 19337381 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 19337381 19337381 G A SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.1159 p.V387I 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 83 0 0 61 9 12.8571 CILP2 0 genome.wustl.edu 37 19 19656302 19656302 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 19656302 19656302 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.2948 p.R983H 0.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 35 0 0 29 3 9.375 ZNF85 0 genome.wustl.edu 37 19 21117776 21117776 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 21117776 21117776 A C SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.152 p.D51A 0.467 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 53 0 0 38 7 15.5556 MFSD12 0 genome.wustl.edu 37 19 3546376 3546376 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 3546376 3546376 C A SNP MFSD12 ENST00000398558 human ensembl 74_37 -1 known missense c.1071 p.W357C 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 21 0 0 16 8 33.3333 GAPDHS 0 genome.wustl.edu 37 19 36033284 36033284 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 36033284 36033284 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known silent c.513 p.G171 0.169 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 56 0 0 41 4 8.88889 ZNF567 0 genome.wustl.edu 37 19 37211245 37211245 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 37211245 37211245 A G SNP ZNF567 ENST00000536254 human ensembl 74_37 +1 known missense c.1619 p.K540R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 75 0 0 64 4 5.88235 FCGBP 0 genome.wustl.edu 37 19 40434210 40434210 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 40434210 40434210 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.59 p.L20S 0.581 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 77 0 0 61 13 17.5676 CIC 0 genome.wustl.edu 37 19 42791717 42791717 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 42791717 42791717 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known silent c.603 p.R201 0.994 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 115 0 0 86 16 15.6863 PLIN4 0 genome.wustl.edu 37 19 4504766 4504766 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 4504766 4504766 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.3779 p.C1260Y 0.006 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 25 0 0 18 4 18.1818 BCAM 0 genome.wustl.edu 37 19 45317997 45317997 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 45317997 45317997 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.1058 p.T353M 0.003 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 83 0 0 69 11 13.75 GEMIN7 0 genome.wustl.edu 37 19 45593386 45593386 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 45593386 45593386 T C SNP GEMIN7 ENST00000270257 human ensembl 74_37 +1 known missense c.14 p.V5A 0.000 NULL pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 251 0 0 188 38 16.8142 TRPM4 0 genome.wustl.edu 37 19 49713591 49713591 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 49713591 49713591 G A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.3257 p.R1086H 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 92 0 0 94 12 11.3208 PRMT1 0 genome.wustl.edu 37 19 50185189 50185189 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 50185189 50185189 G A SNP PRMT1 ENST00000454376 human ensembl 74_37 +1 known missense c.215 p.R72H 0.990 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT1 HGNC ENSG00000126457 50 0 0 48 5 9.43396 TSKS 0 genome.wustl.edu 37 19 50266392 50266392 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 50266392 50266392 C A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.113 p.R38M 0.688 NULL NULL - no_errors TSKS HGNC ENSG00000126467 158 0 0 121 21 14.7887 PTOV1 0 genome.wustl.edu 37 19 50360277 50360277 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 50360277 50360277 G A SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.604 p.V202M 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 266 0 0 182 38 17.2727 NR1H2 0 genome.wustl.edu 37 19 50882274 50882274 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 50882274 50882274 G A SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.763 p.A255T 0.474 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 143 1 0.694444 127 21 14.1892 POLD1 0 genome.wustl.edu 37 19 50905604 50905604 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 50905604 50905604 C T SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known silent c.732 p.Y244 0.752 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 80 0 0 49 4 7.54717 IGLON5 0 genome.wustl.edu 37 19 51826934 51826934 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 51826934 51826934 C T SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known silent c.177 p.H59 0.863 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 48 0 0 37 6 13.9535 PTPRS 0 genome.wustl.edu 37 19 5240270 5240270 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 5240270 5240270 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.1647 p.P549 0.777 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 21 0 0 19 4 17.3913 ZNF480 0 genome.wustl.edu 37 19 52825647 52825647 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 52825647 52825647 C T SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known nonsense c.1144 p.Q382* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF480 HGNC ENSG00000198464 107 0 0 84 17 16.8317 MIR518A2 0 genome.wustl.edu 37 19 54242600 54242600 + RNA SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 54242600 54242600 G A SNP MIR518A2 ENST00000384966 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR518A2 HGNC ENSG00000207699 212 0 0 194 42 17.7966 EPN1 0 genome.wustl.edu 37 19 56203248 56203248 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 56203248 56203248 C T SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known silent c.1149 p.G383 0.044 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 44 0 0 33 5 13.1579 ZNF583 0 genome.wustl.edu 37 19 56935314 56935314 + Silent SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 56935314 56935314 T G SNP ZNF583 ENST00000291598 human ensembl 74_37 +1 known silent c.1287 p.V429 0.005 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF583 HGNC ENSG00000198440 76 0 0 58 9 13.4328 ZNF8 0 genome.wustl.edu 37 19 58806559 58806559 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 58806559 58806559 G A SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known missense c.1385 p.R462Q 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 Uniprot_gn ENSG00000083842 252 0 0 244 15 5.79151 EMR1 0 genome.wustl.edu 37 19 6924840 6924840 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 6924840 6924840 C T SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1943 p.A648V 0.994 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 110 0 0 86 19 18.0952 PNPLA6 0 genome.wustl.edu 37 19 7607530 7607530 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 7607530 7607530 G A SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known missense c.1363 p.G455R 0.006 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 61 0 0 41 7 14.5833 MUC16 0 genome.wustl.edu 37 19 9085173 9085173 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 9085173 9085173 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.6642 p.N2214 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 88 0 0 60 15 20 MUC16 0 genome.wustl.edu 37 19 9090794 9090794 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 9090794 9090794 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.1021 p.E341K 0.009 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 80 0 0 70 18 20.4545 GPR45 0 genome.wustl.edu 37 2 105858611 105858611 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 105858611 105858611 G A SNP GPR45 ENST00000258456 human ensembl 74_37 +1 known missense c.296 p.R99H 0.233 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR45 HGNC ENSG00000135973 146 0 0 160 9 5.32544 TGFBRAP1 0 genome.wustl.edu 37 2 105886050 105886050 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 105886050 105886050 C T SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.2085 p.A695 0.573 pfam_Clathrin_H-chain/VPS_repeat pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 36 0 0 18 5 21.7391 C2orf40 0 genome.wustl.edu 37 2 106694342 106694342 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 106694342 106694342 G A SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known missense c.407 p.G136D 0.618 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 65 0 0 49 5 9.25926 PQLC3 0 genome.wustl.edu 37 2 11315100 11315100 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 11315100 11315100 T C SNP PQLC3 ENST00000295083 human ensembl 74_37 +1 known missense c.482 p.I161T 0.998 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC ENSG00000162976 110 0 0 90 15 14.2857 TTL 0 genome.wustl.edu 37 2 113277874 113277874 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 113277874 113277874 C T SNP TTL ENST00000233336 human ensembl 74_37 +1 known silent c.891 p.S297 0.926 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTL HGNC ENSG00000114999 144 0 0 130 23 15.0327 GREB1 0 genome.wustl.edu 37 2 11742628 11742628 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 11742628 11742628 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2626 p.D876N 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 405 0 0 389 49 11.1872 MAP3K19 0 genome.wustl.edu 37 2 135738842 135738842 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 135738842 135738842 G A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.3469 p.P1157S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 131 0 0 109 13 10.6557 R3HDM1 0 genome.wustl.edu 37 2 136473119 136473119 + Splice_Site SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 136473119 136473119 G T SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known splice_site c.2632-1 e21-1 1.000 - - - no_errors R3HDM1 HGNC ENSG00000048991 173 0 0 146 16 9.87654 HNMT 0 genome.wustl.edu 37 2 138771371 138771371 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 138771371 138771371 A G SNP HNMT ENST00000280097 human ensembl 74_37 +1 known missense c.550 p.K184E 1.000 pirsf_Histamine_N-methyltransferase pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase - no_errors HNMT HGNC ENSG00000150540 36 0 0 40 6 13.0435 TTC21B 0 genome.wustl.edu 37 2 166758247 166758247 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 166758247 166758247 G A SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known silent c.2742 p.C914 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 82 0 0 55 7 11.2903 LRP2 0 genome.wustl.edu 37 2 170101424 170101424 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 170101424 170101424 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3209 p.S1070L 0.005 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 101 0 0 86 9 9.47368 TTC30A 0 genome.wustl.edu 37 2 178482139 178482139 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 178482139 178482139 C T SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.1291 p.A431T 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 194 0 0 184 19 9.35961 TTC30A 0 genome.wustl.edu 37 2 178483032 178483032 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 178483032 178483032 C T SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.398 p.R133K 1.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 192 0 0 160 23 12.5683 TTN 0 genome.wustl.edu 37 2 179423360 179423360 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179423360 179423360 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79122 p.K26374N 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0 47 9 16.0714 TTN 0 genome.wustl.edu 37 2 179439680 179439680 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179439680 179439680 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.63475 p.P21159S 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 41 0 0 36 7 16.2791 TTN 0 genome.wustl.edu 37 2 179447097 179447097 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179447097 179447097 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58382 p.R19461H 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 52 5 8.77193 TTN 0 genome.wustl.edu 37 2 179499969 179499969 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179499969 179499969 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.34243 p.S11415G 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 120 0 0 97 20 17.094 TTN 0 genome.wustl.edu 37 2 179501128 179501128 + Nonsense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179501128 179501128 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.33622 p.E11208* 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 57 0 0 51 8 13.5593 TTN 0 genome.wustl.edu 37 2 179571595 179571595 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 179571595 179571595 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.25396 p.V8466I 0.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 29 0 0 30 4 11.7647 PLCL1 0 genome.wustl.edu 37 2 198950517 198950517 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 198950517 198950517 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.2276 p.A759V 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 115 0 0 100 19 15.9664 ABI2 0 genome.wustl.edu 37 2 204267383 204267383 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 204267383 204267383 G A SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.1118 p.R373H 1.000 NULL pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 102 0 0 83 6 6.74157 FASTKD2 0 genome.wustl.edu 37 2 207651571 207651571 + Silent SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 207651571 207651571 T A SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known silent c.1542 p.A514 0.000 pfam_FAST_Leu-rich pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 113 0 0 102 12 10.5263 MREG 0 genome.wustl.edu 37 2 216809668 216809668 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 216809668 216809668 C T SNP MREG ENST00000263268 human ensembl 74_37 -1 known missense c.563 p.R188Q 0.093 NULL NULL - no_errors MREG HGNC ENSG00000118242 55 0 0 30 5 14.2857 TMEM169 0 genome.wustl.edu 37 2 216964784 216964784 + Nonsense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 216964784 216964784 C A SNP TMEM169 ENST00000295658 human ensembl 74_37 +1 known nonsense c.413 p.S138* 0.082 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 89 0 0 81 17 17.3469 TNS1 0 genome.wustl.edu 37 2 218683363 218683363 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 218683363 218683363 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.3380 p.A1127V 0.324 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 63 0 0 70 7 9.09091 TTLL4 0 genome.wustl.edu 37 2 219603187 219603187 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 219603187 219603187 C T SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.788 p.P263L 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 140 0 0 140 16 10.2564 TRIP12 0 genome.wustl.edu 37 2 230672480 230672480 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 230672480 230672480 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.2296 p.R766C 1.000 superfamily_ARM-type_fold,pfscan_WWE-dom pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 69 0 0 55 11 16.6667 ECEL1 0 genome.wustl.edu 37 2 233350780 233350780 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 233350780 233350780 C T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.584 p.R195Q 0.999 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 21 0 0 14 4 22.2222 CHRNG 0 genome.wustl.edu 37 2 233407735 233407735 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 233407735 233407735 G A SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.748 p.A250T 0.322 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 227 0 0 210 34 13.9344 GIGYF2 0 genome.wustl.edu 37 2 233652024 233652024 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 233652024 233652024 C T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.763 p.R255* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 59 0 0 52 4 7.14286 DNMT3A 0 genome.wustl.edu 37 2 25467502 25467502 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 25467502 25467502 G A SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.1574 p.A525V 1.000 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 64 0 0 58 4 6.45161 FBXO11 0 genome.wustl.edu 37 2 48046138 48046138 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 48046138 48046138 C T SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.1877 p.S626N 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 147 0 0 140 17 10.828 USP34 0 genome.wustl.edu 37 2 61430387 61430387 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 61430387 61430387 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known silent c.9396 p.D3132 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 56 0 0 65 6 8.4507 LGALSL 0 genome.wustl.edu 37 2 64683599 64683599 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 64683599 64683599 G T SNP LGALSL ENST00000238875 human ensembl 74_37 +1 known missense c.375 p.R125S 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALSL HGNC ENSG00000119862 258 0 0 212 29 12.0332 FBXO41 0 genome.wustl.edu 37 2 73491512 73491512 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 73491512 73491512 C A SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.1883 p.R628L 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 179 0 0 151 11 6.79012 MOGS 0 genome.wustl.edu 37 2 74689823 74689823 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 74689823 74689823 C T SNP MOGS ENST00000233616 human ensembl 74_37 -1 known missense c.1093 p.A365T 0.943 pfam_Glycoside_hydrolase_63 pfam_Glycoside_hydrolase_63,superfamily_6-hairpin_glycosidase-like - no_errors MOGS HGNC ENSG00000115275 178 0 0 164 11 6.28571 HTRA2 0 genome.wustl.edu 37 2 74760069 74760069 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 74760069 74760069 G A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known missense c.1334 p.R445Q 0.001 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 223 0 0 152 23 13.1429 ANKRD36BP2 0 genome.wustl.edu 37 2 89103957 89103957 + RNA SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 89103957 89103957 G A SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 27 0 0 34 5 12.8205 PROM2 0 genome.wustl.edu 37 2 95954315 95954315 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 95954315 95954315 C T SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.2419 p.R807C 0.996 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 102 0 0 94 12 11.3208 ANKRD36 0 genome.wustl.edu 37 2 97784159 97784159 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 97784159 97784159 G A SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.391 p.G131R 0.507 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 115 0 0 91 10 9.90099 DLGAP4 0 genome.wustl.edu 37 20 35060650 35060650 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 35060650 35060650 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.530 p.G177D 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 68 0 0 43 10 18.8679 TTPAL 0 genome.wustl.edu 37 20 43108886 43108886 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 43108886 43108886 C T SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.247 p.R83C 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 35 0 0 44 4 8.33333 ELMO2 0 genome.wustl.edu 37 20 45004410 45004410 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 45004410 45004410 C T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 85 0 0 64 13 16.8831 SLC9A8 0 genome.wustl.edu 37 20 48503379 48503379 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 48503379 48503379 G A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.1630 p.V544M 0.924 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 112 0 0 69 7 9.21053 GPCPD1 0 genome.wustl.edu 37 20 5574004 5574004 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 5574004 5574004 C T SNP GPCPD1 ENST00000379019 human ensembl 74_37 -1 known missense c.200 p.R67H 1.000 pfam_CBM_fam20,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 pfam_GlyceroP-diester-Pdiesterase,pfam_CBM_fam20,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Carb-bd-like_fold,pfscan_CBM_fam20 - no_errors GPCPD1 HGNC ENSG00000125772 253 0 0 188 31 14.1553 SLC17A9 0 genome.wustl.edu 37 20 61598711 61598711 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 61598711 61598711 C T SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.1170 p.G390 0.325 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 270 0 0 221 25 10.1626 OPRL1 0 genome.wustl.edu 37 20 62729272 62729272 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 62729272 62729272 G A SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known silent c.351 p.P117 0.016 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 200 1 0.497512 134 25 15.7233 KRTAP21-1 0 genome.wustl.edu 37 21 32127620 32127620 + Missense_Mutation SNP C C G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 32127620 32127620 C G SNP KRTAP21-1 ENST00000335093 human ensembl 74_37 -1 known missense c.77 p.C26S 0.010 NULL NULL - no_errors KRTAP21-1 HGNC ENSG00000187005 167 0 0 166 21 11.2299 MIS18A 0 genome.wustl.edu 37 21 33651281 33651281 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 33651281 33651281 G A SNP MIS18A ENST00000290130 human ensembl 74_37 -1 known silent c.45 p.G15 0.000 NULL NULL - no_errors MIS18A HGNC ENSG00000159055 116 0 0 67 12 15.1899 MRAP 0 genome.wustl.edu 37 21 33679016 33679016 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 33679016 33679016 C T SNP MRAP ENST00000303645 human ensembl 74_37 +1 known missense c.172 p.L58F 0.998 NULL NULL - no_errors MRAP HGNC ENSG00000170262 97 0 0 67 14 17.284 DOPEY2 0 genome.wustl.edu 37 21 37665815 37665815 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 37665815 37665815 A T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.6843 p.L2281F 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 107 0 0 111 12 9.7561 DYRK1A 0 genome.wustl.edu 37 21 38862544 38862544 + Missense_Mutation SNP C C G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 38862544 38862544 C G SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.732 p.N244K 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 104 0 0 77 15 16.3043 UBASH3A 0 genome.wustl.edu 37 21 43833294 43833294 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 43833294 43833294 C T SNP UBASH3A ENST00000319294 human ensembl 74_37 +1 known silent c.516 p.F172 0.810 NULL pfam_His_Pase_superF_clade-1,pfam_SH3_domain,superfamily_SH3_domain,superfamily_UBA-like,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3A HGNC ENSG00000160185 115 0 0 75 17 18.4783 RSPH1 0 genome.wustl.edu 37 21 43906511 43906511 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 43906511 43906511 G A SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.335 p.T112I 1.000 pfam_MORN,smart_MORN pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 216 0 0 152 24 13.6364 ITGB2 0 genome.wustl.edu 37 21 46308725 46308725 + Missense_Mutation SNP T T G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 46308725 46308725 T G SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known missense c.1963 p.N655H 0.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 76 0 0 60 11 15.493 COL6A1 0 genome.wustl.edu 37 21 47423388 47423388 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 47423388 47423388 C T SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known missense c.2548 p.R850C 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 40 0 0 23 5 17.8571 COL6A2 0 genome.wustl.edu 37 21 47549166 47549166 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 47549166 47549166 C T SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known missense c.2518 p.P840S 0.999 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 212 0 0 167 24 12.5654 BMS1P20 0 genome.wustl.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 22664141 22664141 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 109 0 0 97 6 5.82524 CHEK2 0 genome.wustl.edu 37 22 29121017 29121017 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 29121017 29121017 G T SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known silent c.669 p.R223 0.995 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 104 0 0 95 15 13.6364 ZNRF3 0 genome.wustl.edu 37 22 29444405 29444405 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 29444405 29444405 G A SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.941 p.R314Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 103 0 0 68 12 15 ASCC2 0 genome.wustl.edu 37 22 30218382 30218382 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 30218382 30218382 G A SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known silent c.483 p.I161 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 163 0 0 178 11 5.82011 MPST 0 genome.wustl.edu 37 22 37420785 37420785 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 37420785 37420785 C T SNP MPST ENST00000397129 human ensembl 74_37 +1 known missense c.589 p.R197C 0.101 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MPST HGNC ENSG00000128309 35 0 0 36 6 14.2857 SH3BP1 0 genome.wustl.edu 37 22 38046564 38046564 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 38046564 38046564 T C SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known missense c.1430 p.V477A 1.000 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 131 0 0 83 13 13.5417 RANGAP1 0 genome.wustl.edu 37 22 41676938 41676938 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 41676938 41676938 A G SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.111 p.D37 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 92 0 0 109 7 6.03448 PARVB 0 genome.wustl.edu 37 22 44514998 44514998 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 44514998 44514998 C T SNP PARVB ENST00000406477 human ensembl 74_37 +1 known silent c.453 p.G151 0.929 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 164 0 0 130 16 10.9589 PLXNB2 0 genome.wustl.edu 37 22 50726198 50726198 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 50726198 50726198 C T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known silent c.1506 p.P502 0.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 17 0 0 18 6 25 SBF1 0 genome.wustl.edu 37 22 50897714 50897714 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 50897714 50897714 C A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.3796 p.G1266C 0.998 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 45 0 0 34 2 5.55556 LMF2 0 genome.wustl.edu 37 22 50944598 50944598 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 50944598 50944598 C T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known missense c.640 p.A214T 0.998 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 10 0 0 10 6 37.5 HHLA2 0 genome.wustl.edu 37 3 108072517 108072517 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 108072517 108072517 A G SNP HHLA2 ENST00000357759 human ensembl 74_37 +1 known missense c.308 p.N103S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors HHLA2 HGNC ENSG00000114455 80 0 0 103 6 5.50459 KIAA1524 0 genome.wustl.edu 37 3 108298166 108298166 + Missense_Mutation SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 108298166 108298166 A T SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.780 p.D260E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 191 0 0 208 27 11.4894 CCDC80 0 genome.wustl.edu 37 3 112324517 112324517 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 112324517 112324517 A C SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.2600 p.L867R 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 91 0 0 98 17 14.7826 SIDT1 0 genome.wustl.edu 37 3 113320434 113320434 + Splice_Site SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 113320434 113320434 G T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known splice_site c.1046-1 e11-1 1.000 - - - no_errors SIDT1 HGNC ENSG00000072858 59 0 0 60 7 10.4478 GSK3B 0 genome.wustl.edu 37 3 119642241 119642241 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 119642241 119642241 C T SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known silent c.456 p.T152 0.984 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 41 0 0 41 5 10.8696 CAND2 0 genome.wustl.edu 37 3 12858445 12858445 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 12858445 12858445 A G SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.2014 p.T672A 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 63 0 0 62 9 12.6761 CHST2 0 genome.wustl.edu 37 3 142840554 142840554 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 142840554 142840554 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.896 p.R299H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 21 0 0 11 5 31.25 C3orf20 0 genome.wustl.edu 37 3 14744719 14744719 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 14744719 14744719 C T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.828 p.S276 0.002 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 235 0 0 248 29 10.4693 WWTR1 0 genome.wustl.edu 37 3 149290705 149290705 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 149290705 149290705 C T SNP WWTR1 ENST00000360632 human ensembl 74_37 -1 known missense c.514 p.V172I 0.052 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWTR1 HGNC ENSG00000018408 92 0 0 83 8 8.79121 PLCH1 0 genome.wustl.edu 37 3 155203278 155203278 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 155203278 155203278 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.2865 p.G955 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 142 1 0.699301 148 18 10.8434 GALNT15 0 genome.wustl.edu 37 3 16237382 16237382 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 16237382 16237382 C T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.655 p.P219S 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 69 0 0 70 8 10.2564 TNFSF10 0 genome.wustl.edu 37 3 172241098 172241098 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 172241098 172241098 A C SNP TNFSF10 ENST00000241261 human ensembl 74_37 -1 known missense c.77 p.L26R 1.000 pirsf_TNF_ligand_10/11 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF10 HGNC ENSG00000121858 130 0 0 140 19 11.9497 PIK3CA 0 genome.wustl.edu 37 3 178936092 178936092 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 178936092 178936092 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1634 p.E545G 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 79 0 0 84 12 12.5 USP13 0 genome.wustl.edu 37 3 179478997 179478997 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 179478997 179478997 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known silent c.2046 p.G682 0.064 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 113 0 0 124 14 10.1449 EIF4G1 0 genome.wustl.edu 37 3 184038434 184038434 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 184038434 184038434 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.575 p.P192L 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 105 0 0 114 16 12.3077 EIF4G1 0 genome.wustl.edu 37 3 184044360 184044360 + Nonsense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 184044360 184044360 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known nonsense c.3289 p.R1097* 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 109 1 0.909091 123 21 14.5833 EPHB3 0 genome.wustl.edu 37 3 184297328 184297328 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 184297328 184297328 G A SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.1865 p.R622Q 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 120 0 0 123 11 8.20896 TP63 0 genome.wustl.edu 37 3 189604248 189604248 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 189604248 189604248 T C SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1415 p.M472T 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 113 0 0 91 23 20.1754 LRRC15 0 genome.wustl.edu 37 3 194081221 194081221 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 194081221 194081221 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known silent c.570 p.S190 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 311 0 0 297 38 11.3433 MUC4 0 genome.wustl.edu 37 3 195480005 195480005 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 195480005 195480005 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15425 p.Q5142R 0.396 smart_EG-like_dom,pfscan_EG-like_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 171 0 0 193 11 5.39216 KAT2B 0 genome.wustl.edu 37 3 20113953 20113953 + Splice_Site SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 20113953 20113953 T C SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known splice_site c.430+2 e2+2 1.000 - - - no_errors KAT2B HGNC ENSG00000114166 170 0 0 176 34 16.1905 GPD1L 0 genome.wustl.edu 37 3 32181857 32181857 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 32181857 32181857 C T SNP GPD1L ENST00000282541 human ensembl 74_37 +1 known silent c.504 p.I168 0.096 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 124 0 0 140 16 10.2564 SCN5A 0 genome.wustl.edu 37 3 38592731 38592731 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 38592731 38592731 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.5132 p.A1711V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 173 0 0 171 13 7.06522 XIRP1 0 genome.wustl.edu 37 3 39227701 39227701 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 39227701 39227701 C T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.3236 p.G1079D 0.008 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 92 0 0 95 6 5.94059 RPL14 0 genome.wustl.edu 37 3 40499484 40499484 + Splice_Site SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 40499484 40499484 T C SNP RPL14 ENST00000338970 human ensembl 74_37 +1 known splice_site c.105+2 e2+2 1.000 - - - no_errors RPL14 HGNC ENSG00000188846 100 0 0 87 17 16.3462 EXOSC7 0 genome.wustl.edu 37 3 45038710 45038710 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 45038710 45038710 G A SNP EXOSC7 ENST00000265564 human ensembl 74_37 +1 known missense c.386 p.R129Q 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 102 0 0 105 13 11.0169 COL7A1 0 genome.wustl.edu 37 3 48602300 48602300 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 48602300 48602300 A G SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.8734 p.C2912R 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 107 0 0 97 13 11.8182 RHOA 0 genome.wustl.edu 37 3 49412922 49412922 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 49412922 49412922 T C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.101 p.Y34C 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 223 0 0 176 85 32.567 CDHR4 0 genome.wustl.edu 37 3 49836453 49836453 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 49836453 49836453 T C SNP CDHR4 ENST00000412678 human ensembl 74_37 -1 known missense c.377 p.Q126R 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR4 HGNC ENSG00000187492 17 0 0 17 4 19.0476 DOCK3 0 genome.wustl.edu 37 3 51196730 51196730 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 51196730 51196730 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.884 p.R295Q 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 127 0 0 132 19 12.5828 TMEM110 0 genome.wustl.edu 37 3 52883877 52883877 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 52883877 52883877 C T SNP TMEM110 ENST00000355083 human ensembl 74_37 -1 known missense c.358 p.V120M 0.404 pfam_DUF3661_TM pfam_DUF3661_TM - no_errors TMEM110 HGNC ENSG00000213533 56 0 0 56 10 15.1515 CACNA1D 0 genome.wustl.edu 37 3 53700399 53700399 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 53700399 53700399 C T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.953 p.A318V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 232 0 0 242 41 14.4876 ERC2 0 genome.wustl.edu 37 3 56044541 56044541 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 56044541 56044541 C T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1856 p.R619Q 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 232 0 0 196 30 13.2743 ATXN7 0 genome.wustl.edu 37 3 63965643 63965643 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 63965643 63965643 A G SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known silent c.552 p.S184 0.998 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 101 0 0 100 18 15.2542 PDZRN3 0 genome.wustl.edu 37 3 73433966 73433966 + Nonsense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 73433966 73433966 G T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known nonsense c.1751 p.S584* 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 68 0 0 51 6 10.5263 CNTN3 0 genome.wustl.edu 37 3 74474047 74474047 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 74474047 74474047 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.403 p.R135C 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 53 0 0 48 7 12.7273 EPHA6 0 genome.wustl.edu 37 3 96962894 96962894 + Missense_Mutation SNP C C G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 96962894 96962894 C G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1369 p.L457V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 48 0 0 60 5 7.69231 OR5AC2 0 genome.wustl.edu 37 3 97806749 97806749 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 97806749 97806749 G A SNP OR5AC2 ENST00000358642 human ensembl 74_37 +1 known missense c.733 p.A245T 0.535 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 71 0 0 86 11 11.3402 CAMK1 0 genome.wustl.edu 37 3 9802450 9802450 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 9802450 9802450 A G SNP CAMK1 ENST00000256460 human ensembl 74_37 -1 known missense c.635 p.L212P 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1 HGNC ENSG00000134072 65 0 0 50 9 15.2542 UGT8 0 genome.wustl.edu 37 4 115544174 115544174 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 115544174 115544174 C T SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known silent c.138 p.H46 0.547 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 70 0 0 56 10 15.1515 NDST3 0 genome.wustl.edu 37 4 119176867 119176867 + Nonstop_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 119176867 119176867 G T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known nonstop c.2622 p.*874Y 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 40 0 0 41 4 8.88889 FAT4 0 genome.wustl.edu 37 4 126389938 126389938 + Silent SNP A A T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 126389938 126389938 A T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.12171 p.G4057 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 124 0 0 120 16 11.7647 UVSSA 0 genome.wustl.edu 37 4 1343557 1343557 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 1343557 1343557 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.344 p.R115Q 0.003 superfamily_ENTH_VHS pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 48 0 0 47 4 7.84314 POU4F2 0 genome.wustl.edu 37 4 147561536 147561536 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 147561536 147561536 G A SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.806 p.R269H 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 49 0 0 45 5 10 SFRP2 0 genome.wustl.edu 37 4 154709838 154709838 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 154709838 154709838 G A SNP SFRP2 ENST00000274063 human ensembl 74_37 -1 known silent c.150 p.C50 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP2 HGNC ENSG00000145423 176 0 0 119 11 8.46154 DDX60 0 genome.wustl.edu 37 4 169227857 169227857 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 169227857 169227857 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known silent c.279 p.A93 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 47 0 0 57 9 13.6364 TRAPPC11 0 genome.wustl.edu 37 4 184622881 184622881 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 184622881 184622881 A G SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known silent c.2883 p.E961 0.939 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 67 0 0 46 19 29.2308 SEL1L3 0 genome.wustl.edu 37 4 25849011 25849011 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 25849011 25849011 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 89 0 0 98 20 16.9492 GRXCR1 0 genome.wustl.edu 37 4 42965093 42965093 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 42965093 42965093 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.569 p.R190Q 0.954 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 505 0 0 512 34 6.22711 ATP10D 0 genome.wustl.edu 37 4 47593216 47593216 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 47593216 47593216 T A SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.4099 p.S1367T 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 155 1 0.641026 142 22 13.4146 FRYL 0 genome.wustl.edu 37 4 48545898 48545898 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 48545898 48545898 G C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.5518 p.L1840V 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 102 0 0 65 8 10.9589 SRD5A3 0 genome.wustl.edu 37 4 56233814 56233814 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 56233814 56233814 A G SNP SRD5A3 ENST00000264228 human ensembl 74_37 +1 known missense c.622 p.M208V 0.254 pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC ENSG00000128039 72 0 0 75 19 20.2128 JAKMIP1 0 genome.wustl.edu 37 4 6080672 6080672 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 6080672 6080672 C T SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known silent c.1296 p.P432 0.043 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 81 0 0 69 9 11.5385 LPHN3 0 genome.wustl.edu 37 4 62845287 62845287 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 62845287 62845287 G T SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.2812 p.D938Y 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 311 1 0.320513 292 44 13.0952 BMP2K 0 genome.wustl.edu 37 4 79832739 79832739 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 79832739 79832739 G A SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.3038 p.R1013H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 109 1 0.909091 70 11 13.5802 CPZ 0 genome.wustl.edu 37 4 8613861 8613861 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 8613861 8613861 C T SNP CPZ ENST00000360986 human ensembl 74_37 +1 known silent c.1335 p.N445 0.993 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 45 0 0 29 4 12.1212 AFF1 0 genome.wustl.edu 37 4 88035905 88035905 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 88035905 88035905 C T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.1920 p.G640 0.017 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 95 0 0 90 17 15.8879 DSPP 0 genome.wustl.edu 37 4 88535421 88535421 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 88535421 88535421 A G SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.1607 p.D536G 0.005 NULL NULL - no_errors DSPP HGNC ENSG00000152591 42 0 0 31 10 24.3902 AQPEP 0 genome.wustl.edu 37 5 115339034 115339034 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 115339034 115339034 T C SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1994 p.L665S 0.034 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 100 0 0 95 13 12.037 ANKHD1 0 genome.wustl.edu 37 5 139905707 139905707 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 139905707 139905707 G A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.4619 p.S1540N 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 225 0 0 213 23 9.74576 ANKHD1 0 genome.wustl.edu 37 5 139909045 139909045 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 139909045 139909045 G T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.6514 p.G2172C 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 200 0 0 214 29 11.9342 IK 0 genome.wustl.edu 37 5 140039372 140039372 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 140039372 140039372 C A SNP IK ENST00000417647 human ensembl 74_37 +1 known silent c.1227 p.S409 0.810 NULL pfam_RED_N,pfam_RED_C - no_errors IK HGNC ENSG00000113141 16 0 0 15 3 16.6667 PCDHB6 0 genome.wustl.edu 37 5 140531705 140531705 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 140531705 140531705 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.1867 p.R623C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 91 0 0 80 16 16.6667 FBXO38 0 genome.wustl.edu 37 5 147803681 147803681 + Splice_Site SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 147803681 147803681 G A SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known splice_site c.1738+1 e12+1 1.000 - - - no_errors FBXO38 HGNC ENSG00000145868 98 0 0 64 13 16.8831 LPCAT1 0 genome.wustl.edu 37 5 1489881 1489881 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 1489881 1489881 A G SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.586 p.S196P 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 306 0 0 266 41 13.355 FABP6 0 genome.wustl.edu 37 5 159659135 159659135 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 159659135 159659135 G A SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known missense c.245 p.R82H 0.956 superfamily_Calycin-like superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 57 0 0 51 4 7.27273 DOCK2 0 genome.wustl.edu 37 5 169174437 169174437 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 169174437 169174437 T A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2305 p.S769T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 63 0 0 43 9 17.3077 UIMC1 0 genome.wustl.edu 37 5 176333041 176333041 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 176333041 176333041 G A SNP UIMC1 ENST00000377219 human ensembl 74_37 -1 known silent c.1923 p.D641 0.325 NULL smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif - no_errors UIMC1 HGNC ENSG00000087206 55 0 0 53 4 7.01754 CDH18 0 genome.wustl.edu 37 5 19571802 19571802 + Missense_Mutation SNP G G C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 19571802 19571802 G C SNP CDH18 ENST00000274170 human ensembl 74_37 -1 known missense c.1139 p.P380R 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 67 0 0 66 6 8.33333 RXFP3 0 genome.wustl.edu 37 5 33938026 33938026 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 33938026 33938026 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1181 p.R394H 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 122 1 0.813008 111 11 9.01639 UGT3A2 0 genome.wustl.edu 37 5 36049272 36049272 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 36049272 36049272 G A SNP UGT3A2 ENST00000282507 human ensembl 74_37 -1 known missense c.562 p.R188C 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A2 HGNC ENSG00000168671 91 0 0 96 7 6.79612 NIPBL 0 genome.wustl.edu 37 5 37006531 37006531 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 37006531 37006531 G A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.3928 p.A1310T 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 54 0 0 58 15 20.5479 NUP155 0 genome.wustl.edu 37 5 37314427 37314427 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 37314427 37314427 G T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.2309 p.A770D 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 46 0 0 32 6 15.7895 ARHGEF28 0 genome.wustl.edu 37 5 73205302 73205302 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 73205302 73205302 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known silent c.4227 p.G1409 0.070 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 33 0 0 34 8 19.0476 F2RL2 0 genome.wustl.edu 37 5 75914009 75914009 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 75914009 75914009 C T SNP F2RL2 ENST00000296641 human ensembl 74_37 -1 known missense c.523 p.G175S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL2 HGNC ENSG00000164220 94 0 0 63 19 23.1707 GPR98 0 genome.wustl.edu 37 5 90074728 90074728 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 90074728 90074728 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.12896 p.R4299Q 0.496 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 222 1 0.44843 176 24 12 NR2F1 0 genome.wustl.edu 37 5 92921019 92921019 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 92921019 92921019 A G SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.290 p.H97R 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 26 0 0 20 4 16.6667 LNPEP 0 genome.wustl.edu 37 5 96341852 96341852 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 96341852 96341852 G A SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.1861 p.V621I 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 82 0 0 80 8 9.09091 PRDM13 0 genome.wustl.edu 37 6 100062155 100062155 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 100062155 100062155 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known silent c.1644 p.P548 0.009 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 32 0 0 24 4 14.2857 HIVEP1 0 genome.wustl.edu 37 6 12122709 12122709 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 12122709 12122709 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2681 p.R894H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 117 0 0 121 19 13.5714 RNF217 0 genome.wustl.edu 37 6 125366443 125366443 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 125366443 125366443 G A SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known silent c.264 p.T88 0.305 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 75 0 0 75 7 8.53659 GFOD1 0 genome.wustl.edu 37 6 13486905 13486905 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 13486905 13486905 G A SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.218 p.P73L 1.000 pfam_Oxidoreductase_N pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 94 0 0 76 6 7.31707 HECA 0 genome.wustl.edu 37 6 139487805 139487805 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 139487805 139487805 C A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.656 p.A219E 0.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 44 0 0 46 3 6.12245 UTRN 0 genome.wustl.edu 37 6 144812155 144812155 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 144812155 144812155 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.4354 p.D1452N 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 149 0 0 120 14 10.4478 SNX9 0 genome.wustl.edu 37 6 158349643 158349643 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 158349643 158349643 C T SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.1197 p.C399 0.983 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 17 0 0 13 3 18.75 SNX9 0 genome.wustl.edu 37 6 158349700 158349700 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 158349700 158349700 G A SNP SNX9 ENST00000392185 human ensembl 74_37 +1 known silent c.1254 p.T418 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX9 HGNC ENSG00000130340 25 0 0 18 2 10 SLC22A1 0 genome.wustl.edu 37 6 160543054 160543054 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 160543054 160543054 G A SNP SLC22A1 ENST00000366963 human ensembl 74_37 +1 known silent c.87 p.S29 0.000 tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A1 HGNC ENSG00000175003 197 0 0 158 29 15.508 RPS6KA2 0 genome.wustl.edu 37 6 166844007 166844007 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 166844007 166844007 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known silent c.1590 p.S530 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 98 0 0 70 14 16.6667 TRIM26 0 genome.wustl.edu 37 6 30166571 30166571 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 30166571 30166571 G A SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known nonsense c.310 p.R104* 0.327 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 111 0 0 81 21 20.5882 MDC1 0 genome.wustl.edu 37 6 30670948 30670948 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 30670948 30670948 C T SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5798 p.R1933Q 0.998 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 68 0 0 46 11 19.2982 HLA-DPB1 0 genome.wustl.edu 37 6 33052994 33052994 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 33052994 33052994 T C SNP HLA-DPB1 ENST00000418931 human ensembl 74_37 +1 known missense c.632 p.V211A 0.193 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DPB1 HGNC ENSG00000223865 93 0 0 66 9 12 ZBTB22 0 genome.wustl.edu 37 6 33283621 33283621 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 33283621 33283621 A G SNP ZBTB22 ENST00000418724 human ensembl 74_37 -1 known missense c.1073 p.I358T 0.672 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB22 HGNC ENSG00000236104 133 0 0 89 21 19.0909 SYNGAP1 0 genome.wustl.edu 37 6 33411173 33411173 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 33411173 33411173 C T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2844 p.G948 0.001 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 248 0 0 193 34 14.978 ITPR3 0 genome.wustl.edu 37 6 33631536 33631536 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 33631536 33631536 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.1027 p.R343C 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 67 0 0 52 7 11.8644 FGD2 0 genome.wustl.edu 37 6 36982747 36982747 + Missense_Mutation SNP T T A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 36982747 36982747 T A SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known missense c.962 p.L321H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 76 0 0 49 11 18.3333 TRERF1 0 genome.wustl.edu 37 6 42204045 42204045 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 42204045 42204045 C A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.3024 p.E1008D 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 38 0 0 27 4 12.9032 KLHDC3 0 genome.wustl.edu 37 6 42985306 42985306 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 42985306 42985306 G A SNP KLHDC3 ENST00000326974 human ensembl 74_37 +1 known silent c.204 p.G68 0.993 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 101 1 0.980392 58 17 22.6667 CLIC5 0 genome.wustl.edu 37 6 45917038 45917038 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 45917038 45917038 A G SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.731 p.V244A 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 224 0 0 182 29 13.7441 GPR116 0 genome.wustl.edu 37 6 46828548 46828548 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 46828548 46828548 A G SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known silent c.2283 p.H761 0.005 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 93 0 0 72 7 8.86076 GPR110 0 genome.wustl.edu 37 6 46977701 46977701 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 46977701 46977701 A C SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.1470 p.I490M 0.080 NULL pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 106 0 0 97 15 13.3929 TINAG 0 genome.wustl.edu 37 6 54212228 54212228 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 54212228 54212228 A G SNP TINAG ENST00000259782 human ensembl 74_37 +1 known missense c.812 p.Q271R 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAG HGNC ENSG00000137251 68 0 0 62 5 7.46269 F13A1 0 genome.wustl.edu 37 6 6266932 6266932 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 6266932 6266932 G A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.430 p.R144W 0.999 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 83 0 0 73 14 16.092 IBTK 0 genome.wustl.edu 37 6 82936995 82936995 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 82936995 82936995 C T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.568 p.V190M 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 114 0 0 114 16 12.3077 ZNF292 0 genome.wustl.edu 37 6 87953265 87953265 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 87953265 87953265 G A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.814 p.A272T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 11 0 0 7 3 30 FUT9 0 genome.wustl.edu 37 6 96651800 96651800 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 96651800 96651800 C A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.769 p.L257I 1.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 50 0 0 43 12 21.8182 MUC17 0 genome.wustl.edu 37 7 100682329 100682329 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 100682329 100682329 T C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.7632 p.S2544 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 603 1 0.165563 464 76 14.0741 DNAJC2 0 genome.wustl.edu 37 7 102953432 102953432 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 102953432 102953432 G A SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.1753 p.P585S 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 267 0 0 226 39 14.717 LAMB1 0 genome.wustl.edu 37 7 107577640 107577640 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 107577640 107577640 C T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.3844 p.A1282T 0.413 superfamily_t-SNARE pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 182 0 0 161 32 16.5803 TMEM168 0 genome.wustl.edu 37 7 112423832 112423832 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 112423832 112423832 C T SNP TMEM168 ENST00000312814 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 superfamily_ConA-like_lec_gl_sf superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 248 0 0 261 22 7.77385 BPGM 0 genome.wustl.edu 37 7 134346677 134346677 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 134346677 134346677 C T SNP BPGM ENST00000344924 human ensembl 74_37 +1 known missense c.418 p.R140W 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 97 0 0 75 17 18.4783 CNOT4 0 genome.wustl.edu 37 7 135079001 135079001 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 135079001 135079001 C T SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.1296 p.S432 0.458 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 145 0 0 139 13 8.55263 SVOPL 0 genome.wustl.edu 37 7 138312915 138312915 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 138312915 138312915 C T SNP SVOPL ENST00000288513 human ensembl 74_37 -1 known missense c.601 p.G201S 0.854 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 154 0 0 128 21 14.094 ATP6V0A4 0 genome.wustl.edu 37 7 138437555 138437555 + Nonsense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 138437555 138437555 G A SNP ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known nonsense c.844 p.Q282* 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 92 0 0 76 13 14.6067 EPHB6 0 genome.wustl.edu 37 7 142566336 142566336 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 142566336 142566336 G A SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.2125 p.A709T 0.095 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 42 0 0 35 5 12.5 ZNF425 0 genome.wustl.edu 37 7 148802270 148802270 + Silent SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 148802270 148802270 G T SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.693 p.S231 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 105 0 0 71 14 16.4706 KRBA1 0 genome.wustl.edu 37 7 149416733 149416733 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 149416733 149416733 C T SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.4 p.R2W 1.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 45 0 0 38 7 15.5556 ZNF862 0 genome.wustl.edu 37 7 149547305 149547305 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 149547305 149547305 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.995 p.P332L 0.204 superfamily_Krueppel-associated_box pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 24 0 0 14 5 26.3158 ABCB8 0 genome.wustl.edu 37 7 150737926 150737926 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 150737926 150737926 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.1451 p.R484H 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 12 0 0 9 2 18.1818 ESYT2 0 genome.wustl.edu 37 7 158560362 158560362 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 158560362 158560362 G A SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known missense c.1051 p.R351W 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 110 1 0.900901 95 18 15.9292 MACC1 0 genome.wustl.edu 37 7 20201455 20201455 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 20201455 20201455 A G SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.31 p.S11P 0.000 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 136 0 0 139 19 12.0253 PAPOLB 0 genome.wustl.edu 37 7 4900547 4900547 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 4900547 4900547 G A SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.892 p.P298S 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 170 0 0 137 19 12.1795 RNF216 0 genome.wustl.edu 37 7 5752387 5752387 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 5752387 5752387 G A SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known silent c.1941 p.A647 0.053 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 60 0 0 36 9 20 AIMP2 0 genome.wustl.edu 37 7 6057478 6057478 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 6057478 6057478 G A SNP AIMP2 ENST00000223029 human ensembl 74_37 +1 known missense c.376 p.A126T 1.000 NULL superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 40 0 0 22 5 18.5185 COL1A2 0 genome.wustl.edu 37 7 94056959 94056959 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 94056959 94056959 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.3288 p.G1096 0.460 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 179 0 0 143 17 10.625 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99017660 99017660 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 99017660 99017660 C T SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.2180 p.R727Q 0.915 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 229 0 0 182 34 15.7407 RGS22 0 genome.wustl.edu 37 8 101011627 101011627 + Missense_Mutation SNP A A C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 101011627 101011627 A C SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2812 p.W938G 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 52 0 0 69 5 6.75676 MTSS1 0 genome.wustl.edu 37 8 125565501 125565501 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 125565501 125565501 C T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.2000 p.G667D 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 174 0 0 154 10 6.09756 FAM135B 0 genome.wustl.edu 37 8 139163507 139163507 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 139163507 139163507 A G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.3211 p.L1071 0.716 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 61 0 0 65 5 7.14286 RHPN1 0 genome.wustl.edu 37 8 144462879 144462879 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 144462879 144462879 G A SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known missense c.1337 p.R446H 0.999 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 12 0 0 9 3 25 TUSC3 0 genome.wustl.edu 37 8 15519705 15519705 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 15519705 15519705 C A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.608 p.A203D 1.000 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 139 0 0 153 18 10.5263 MYOM2 0 genome.wustl.edu 37 8 2092718 2092718 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 2092718 2092718 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.4211 p.T1404I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 132 0 0 123 13 9.55882 DOK2 0 genome.wustl.edu 37 8 21767139 21767139 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 21767139 21767139 G T SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.922 p.R308S 0.289 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 130 0 0 111 12 9.7561 LOXL2 0 genome.wustl.edu 37 8 23167240 23167240 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 23167240 23167240 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known silent c.1821 p.G607 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 46 0 0 45 4 8.16327 DPYSL2 0 genome.wustl.edu 37 8 26492331 26492331 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 26492331 26492331 C T SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known silent c.726 p.I242 0.189 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 132 0 0 148 9 5.73248 RNF122 0 genome.wustl.edu 37 8 33416240 33416240 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 33416240 33416240 C T SNP RNF122 ENST00000256257 human ensembl 74_37 -1 known missense c.75 p.M25I 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF122 HGNC ENSG00000133874 114 0 0 101 6 5.60748 SMIM19 0 genome.wustl.edu 37 8 42407698 42407698 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 42407698 42407698 G A SNP SMIM19 ENST00000414154 human ensembl 74_37 +1 known missense c.271 p.D91N 1.000 NULL NULL - no_errors SMIM19 HGNC ENSG00000176209 66 0 0 70 7 9.09091 SPIDR 0 genome.wustl.edu 37 8 48625354 48625354 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 48625354 48625354 T C SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.2108 p.V703A 0.046 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 192 0 0 171 16 8.55615 DNAJC5B 0 genome.wustl.edu 37 8 66988980 66988980 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 66988980 66988980 G A SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known missense c.205 p.A69T 0.988 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 195 0 0 193 27 12.2727 NCOA2 0 genome.wustl.edu 37 8 71071833 71071833 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 71071833 71071833 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.1031 p.G344D 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 149 0 0 154 15 8.87574 LRRCC1 0 genome.wustl.edu 37 8 86042248 86042248 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 86042248 86042248 C T SNP LRRCC1 ENST00000360375 human ensembl 74_37 +1 known missense c.1721 p.A574V 0.401 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 128 0 0 133 16 10.7383 DCAF4L2 0 genome.wustl.edu 37 8 88885339 88885339 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 88885339 88885339 T C SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known silent c.861 p.S287 0.975 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 103 0 0 73 10 12.0482 KIAA1429 0 genome.wustl.edu 37 8 95500956 95500956 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 95500956 95500956 T C SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.5417 p.H1806R 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 182 0 0 212 26 10.9244 ANKS6 0 genome.wustl.edu 37 9 101552786 101552786 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 101552786 101552786 G A SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known silent c.462 p.G154 0.675 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 31 0 0 23 8 25.8065 ZNF462 0 genome.wustl.edu 37 9 109687613 109687613 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 109687613 109687613 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.1420 p.E474K 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 109 0 0 81 30 27.027 ZNF462 0 genome.wustl.edu 37 9 109687834 109687834 + Silent SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 109687834 109687834 A G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.1641 p.P547 0.196 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 38 0 0 35 10 22.2222 MUSK 0 genome.wustl.edu 37 9 113550073 113550073 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 113550073 113550073 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.1882 p.A628T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 45 0 0 26 7 21.2121 DAB2IP 0 genome.wustl.edu 37 9 124530798 124530798 + Silent SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 124530798 124530798 C A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.1785 p.I595 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 154 0 0 136 22 13.9241 NEK6 0 genome.wustl.edu 37 9 127089652 127089652 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 127089652 127089652 G A SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known missense c.652 p.G218S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 307 0 0 229 36 13.5849 GOLGA1 0 genome.wustl.edu 37 9 127644063 127644063 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 127644063 127644063 C A SNP GOLGA1 ENST00000373555 human ensembl 74_37 -1 known missense c.2136 p.E712D 1.000 pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP pfam_GRIP,superfamily_Prefoldin,superfamily_GRIP,smart_GRIP,pfscan_GRIP - no_errors GOLGA1 HGNC ENSG00000136935 156 0 0 121 15 11.0294 FPGS 0 genome.wustl.edu 37 9 130572387 130572387 + Splice_Site SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 130572387 130572387 T C SNP FPGS ENST00000373247 human ensembl 74_37 +1 known splice_site c.1287+2 e13+2 1.000 - - - no_errors FPGS HGNC ENSG00000136877 48 0 0 25 7 21.875 SWI5 0 genome.wustl.edu 37 9 131038469 131038469 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 131038469 131038469 C A SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.45 p.S15R 0.089 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 141 0 0 84 19 18.4466 MPDZ 0 genome.wustl.edu 37 9 13143471 13143471 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 13143471 13143471 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.3834 p.A1278 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 145 0 0 123 17 12.1429 TOR1A 0 genome.wustl.edu 37 9 132585059 132585059 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 132585059 132585059 G A SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.245 p.A82V 0.995 pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 168 0 0 143 20 12.2699 RAPGEF1 0 genome.wustl.edu 37 9 134459791 134459791 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 134459791 134459791 C T SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known silent c.2817 p.R939 0.993 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 36 0 0 40 6 13.0435 RALGDS 0 genome.wustl.edu 37 9 135977061 135977061 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 135977061 135977061 G A SNP RALGDS ENST00000542690 human ensembl 74_37 -1 known missense c.2513 p.T838M 0.988 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 63 0 0 46 9 16.3636 KCNT1 0 genome.wustl.edu 37 9 138650317 138650317 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 138650317 138650317 A G SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.817 p.I273V 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 99 0 0 70 10 12.5 FREM1 0 genome.wustl.edu 37 9 14805124 14805124 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 14805124 14805124 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.3304 p.A1102T 0.998 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 175 0 0 146 32 17.9775 ADAMTSL1 0 genome.wustl.edu 37 9 18574213 18574213 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 18574213 18574213 T C SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known silent c.423 p.G141 0.794 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 232 0 0 216 35 13.9442 FOCAD 0 genome.wustl.edu 37 9 20874757 20874757 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 20874757 20874757 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known silent c.2268 p.G756 0.414 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 220 0 0 148 32 17.7778 IFNA7 0 genome.wustl.edu 37 9 21202157 21202157 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 21202157 21202157 C T SNP IFNA7 ENST00000239347 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.000 pfam_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA7 HGNC ENSG00000214042 85 0 0 88 10 10.2041 UNC13B 0 genome.wustl.edu 37 9 35382432 35382432 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 35382432 35382432 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known silent c.2487 p.N829 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 171 0 0 138 26 15.8537 AK3 0 genome.wustl.edu 37 9 4719182 4719182 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 4719182 4719182 C T SNP AK3 ENST00000381809 human ensembl 74_37 -1 known missense c.397 p.A133T 0.008 pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 113 0 0 120 12 9.09091 KDM4C 0 genome.wustl.edu 37 9 6888045 6888045 + Silent SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 6888045 6888045 T C SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known silent c.765 p.Y255 0.970 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 79 0 0 75 26 25.7426 FAM122A 0 genome.wustl.edu 37 9 71395740 71395740 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 71395740 71395740 C T SNP FAM122A ENST00000394264 human ensembl 74_37 +1 known silent c.660 p.G220 1.000 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 118 0 0 99 15 13.1579 CTSL3P 0 genome.wustl.edu 37 9 90387899 90387899 + RNA SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 90387899 90387899 G A SNP CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CTSL3P HGNC ENSG00000188029 108 0 0 75 10 11.7647 PTPDC1 0 genome.wustl.edu 37 9 96859844 96859844 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 96859844 96859844 G T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known missense c.834 p.E278D 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 126 0 0 125 8 6.01504 TRMT2B 0 genome.wustl.edu 37 X 100274338 100274338 + Missense_Mutation SNP A A G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 100274338 100274338 A G SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.1223 p.L408P 0.422 pfam_U5_MeTrfase pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 55 0 0 41 40 49.3827 TCEAL6 0 genome.wustl.edu 37 X 101396155 101396155 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 101396155 101396155 G T SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.149 p.A50D 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 64 0 0 71 16 18.3908 PIGA 0 genome.wustl.edu 37 X 15349629 15349629 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 15349629 15349629 C T SNP PIGA ENST00000333590 human ensembl 74_37 -1 known missense c.424 p.A142T 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 56 0 0 56 7 11.1111 PPP2R3B 0 genome.wustl.edu 37 X 295141 295141 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 295141 295141 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1689 p.Y563 0.951 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 60 0 0 35 4 10.2564 MAGEB16 0 genome.wustl.edu 37 X 35821242 35821242 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 35821242 35821242 C T SNP MAGEB16 ENST00000399992 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.028 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 14 0 0 14 3 17.6471 CASK 0 genome.wustl.edu 37 X 41379720 41379720 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 41379720 41379720 G A SNP CASK ENST00000378163 human ensembl 74_37 -1 known missense c.2734 p.L912F 1.000 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_Prot_kinase_dom,pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Guanylate_kin-like - no_errors CASK HGNC ENSG00000147044 33 0 0 17 16 48.4848 SUV39H1 0 genome.wustl.edu 37 X 48564698 48564698 + Missense_Mutation SNP G G T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 48564698 48564698 G T SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.904 p.D302Y 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 57 0 0 40 27 40.2985 CXorf67 0 genome.wustl.edu 37 X 51150887 51150887 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 51150887 51150887 C T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1019 p.T340M 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 33 0 0 13 5 27.7778 WNK3 0 genome.wustl.edu 37 X 54276024 54276024 + Missense_Mutation SNP C C A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 54276024 54276024 C A SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.2757 p.L919F 0.046 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 104 0 0 114 11 8.8 UBQLN2 0 genome.wustl.edu 37 X 56591820 56591820 + Missense_Mutation SNP T T C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 56591820 56591820 T C SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.1514 p.V505A 0.988 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 8 0 0 3 3 50 RGAG4 0 genome.wustl.edu 37 X 71351350 71351350 + Missense_Mutation SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 71351350 71351350 G A SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.41 p.A14V 0.990 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 26 0 0 24 4 14.2857 ERCC6L 0 genome.wustl.edu 37 X 71427426 71427426 + Silent SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 71427426 71427426 C T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known silent c.1191 p.T397 0.967 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 67 0 0 81 23 22.1154 CDX4 0 genome.wustl.edu 37 X 72674374 72674374 + Missense_Mutation SNP C C T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 72674374 72674374 C T SNP CDX4 ENST00000373514 human ensembl 74_37 +1 known missense c.808 p.R270C 0.024 NULL pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX4 HGNC ENSG00000131264 26 0 0 7 15 68.1818 SATL1 0 genome.wustl.edu 37 X 84363384 84363384 + Silent SNP G G A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 84363384 84363384 G A SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known silent c.591 p.G197 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 115 0 0 65 18 21.6867 BCL9 0 genome.wustl.edu 37 1 147091500 147091501 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 147091500 147091501 - C INS BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_ins c.1539_1540 p.P516fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 193 0 0 176 22 11.1111 ABL2 0 genome.wustl.edu 37 1 179077893 179077894 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 179077893 179077894 - T INS ABL2 ENST00000502732 human ensembl 74_37 -1 known frame_shift_ins c.2509_2508 p.S836fs 1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 123 0 0 148 16 9.7561 GGPS1 0 genome.wustl.edu 37 1 235505913 235505913 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 235505913 235505913 A - DEL GGPS1 ENST00000282841 human ensembl 74_37 +1 known frame_shift_del c.729 p.K245fs 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 68 0 0 58 13 18.3099 SMAP2 0 genome.wustl.edu 37 1 40878734 40878734 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 40878734 40878734 A - DEL SMAP2 ENST00000372718 human ensembl 74_37 +1 known frame_shift_del c.449 p.K152fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 84 0 0 77 13 14.4444 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 90 0 0 56 14 20 LZTS2 0 genome.wustl.edu 37 10 102762312 102762313 + Frame_Shift_Del DEL CT CT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 102762312 102762313 CT - DEL LZTS2 ENST00000370220 human ensembl 74_37 +1 known frame_shift_del c.17_18 p.L7fs 1.000:0.975 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 110 0 0 71 11 13.4146 DCLRE1A 0 genome.wustl.edu 37 10 115609826 115609826 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 115609826 115609826 T - DEL DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_del c.1038 p.K346fs 0.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 131 0 0 132 20 13.1579 TRUB1 0 genome.wustl.edu 37 10 116730192 116730192 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 116730192 116730192 C - DEL TRUB1 ENST00000298746 human ensembl 74_37 +1 known frame_shift_del c.589 p.L199fs 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 249 0 0 267 33 11 C10orf90 0 genome.wustl.edu 37 10 128193320 128193320 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 128193320 128193320 G - DEL C10orf90 ENST00000544758 human ensembl 74_37 -1 known frame_shift_del c.740 p.P247fs 0.057 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 81 0 0 82 15 15.4639 CXCL12 0 genome.wustl.edu 37 10 44871450 44871450 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 44871450 44871450 T - DEL CXCL12 ENST00000374426 human ensembl 74_37 -1 known frame_shift_del c.297 p.E100fs 1.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CXCL12 HGNC ENSG00000107562 179 0 0 161 30 15.7068 ANK3 0 genome.wustl.edu 37 10 61823946 61823946 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 10 61823946 61823946 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.12420 p.K4140fs 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 124 0 0 127 18 12.4138 TRIM29 0 genome.wustl.edu 37 11 120008403 120008403 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 120008403 120008403 C - DEL TRIM29 ENST00000341846 human ensembl 74_37 -1 known frame_shift_del c.337 p.A113fs 0.008 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC ENSG00000137699 460 0 0 376 46 10.9005 VSIG2 0 genome.wustl.edu 37 11 124620739 124620740 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 124620739 124620740 - G INS VSIG2 ENST00000326621 human ensembl 74_37 -1 known frame_shift_ins c.298_297 p.T99fs 0.998:1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 74 0 0 82 9 9.89011 SPON1 0 genome.wustl.edu 37 11 14276276 14276277 + Splice_Site DEL GT GT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 14276276 14276277 GT - DEL SPON1 ENST00000310358 human ensembl 74_37 +1 known splice_site_del c.NULL NULL 1.000:1.000 - - - no_errors SPON1 HGNC ENSG00000152268 89 0 0 79 6 7.05882 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 43 0 0 56 7 11.1111 KCNA4 0 genome.wustl.edu 37 11 30033563 30033563 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 30033563 30033563 A - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.663 p.F221fs 0.902 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 126 0 0 109 14 11.3821 ART1 0 genome.wustl.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 3681478 3681478 C - DEL ART1 ENST00000250693 human ensembl 74_37 +1 known frame_shift_del c.729 p.F246fs 0.999 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 101 0 0 96 8 7.69231 PKP3 0 genome.wustl.edu 37 11 399184 399184 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 399184 399184 A - DEL PKP3 ENST00000331563 human ensembl 74_37 +1 known frame_shift_del c.1261 p.N422fs 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 22 0 0 9 5 35.7143 ARHGAP1 0 genome.wustl.edu 37 11 46702224 46702224 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 46702224 46702224 G - DEL ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known frame_shift_del c.709 p.L237fs 0.993 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 90 0 0 73 15 17.0455 PTPRJ 0 genome.wustl.edu 37 11 48157816 48157816 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 48157816 48157816 G - DEL PTPRJ ENST00000418331 human ensembl 74_37 +1 known frame_shift_del c.1841 p.D616fs 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 161 0 0 127 20 13.6054 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 53 0 0 53 7 11.6667 NUMA1 0 genome.wustl.edu 37 11 71724190 71724190 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 11 71724190 71724190 C - DEL NUMA1 ENST00000393695 human ensembl 74_37 -1 known frame_shift_del c.4359 p.L1454fs 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 180 0 0 176 22 11.1111 UHRF1BP1L 0 genome.wustl.edu 37 12 100451350 100451350 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 100451350 100451350 T - DEL UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known frame_shift_del c.3423 p.G1142fs 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 75 0 0 75 11 12.7907 UTP20 0 genome.wustl.edu 37 12 101682762 101682763 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 101682762 101682763 - A INS UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_ins c.540_541 p.L182fs 1.000:1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 57 0 0 53 9 14.5161 CCDC63 0 genome.wustl.edu 37 12 111311659 111311659 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 111311659 111311659 A - DEL CCDC63 ENST00000308208 human ensembl 74_37 +1 known frame_shift_del c.383 p.I131fs 0.872 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 109 0 0 103 20 16.2602 HECTD4 0 genome.wustl.edu 37 12 112690348 112690349 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 112690348 112690349 - G INS HECTD4 ENST00000377560 human ensembl 74_37 -1 known frame_shift_ins c.2916_2915 p.S973fs 0.999:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 113 0 0 126 11 8.0292 SLC38A1 0 genome.wustl.edu 37 12 46594965 46594965 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 46594965 46594965 T - DEL SLC38A1 ENST00000398637 human ensembl 74_37 -1 known frame_shift_del c.919 p.M307fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC ENSG00000111371 35 0 0 39 6 13.3333 KMT2D 0 genome.wustl.edu 37 12 49447032 49447032 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 49447032 49447032 T - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.912 p.K304fs 0.842 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 251 0 0 191 32 14.3498 KRT79 0 genome.wustl.edu 37 12 53225246 53225246 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 53225246 53225246 C - DEL KRT79 ENST00000330553 human ensembl 74_37 -1 known frame_shift_del c.642 p.R215fs 0.064 pfam_IF pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 224 0 0 191 22 10.3286 XPOT 0 genome.wustl.edu 37 12 64812755 64812755 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 64812755 64812755 T - DEL XPOT ENST00000332707 human ensembl 74_37 +1 known frame_shift_del c.370 p.F126fs 1.000 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 172 1 0.578035 154 25 13.9665 TMBIM4 0 genome.wustl.edu 37 12 66547156 66547156 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 66547156 66547156 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 0.995 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 122 1 0.813008 137 11 7.43243 LGR5 0 genome.wustl.edu 37 12 71977713 71977713 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 12 71977713 71977713 T - DEL LGR5 ENST00000266674 human ensembl 74_37 +1 known frame_shift_del c.1923 p.L643fs 0.000 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 133 0 0 84 16 16 CARS2 0 genome.wustl.edu 37 13 111315833 111315833 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 111315833 111315833 T - DEL CARS2 ENST00000257347 human ensembl 74_37 -1 known frame_shift_del c.952 p.M318fs 1.000 pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 44 0 0 59 8 11.9403 UPF3A 0 genome.wustl.edu 37 13 115067419 115067419 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 115067419 115067419 G - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.1221 p.E409fs 0.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 60 0 0 44 7 13.7255 SACS 0 genome.wustl.edu 37 13 23912652 23912654 + In_Frame_Del DEL TCA TCA - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 23912652 23912654 TCA - DEL SACS ENST00000382292 human ensembl 74_37 -1 known in_frame_del c.5363_5361 p.D1788in_frame_del 1.000:1.000:1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 214 0 0 173 10 5.46448 ZC3H13 0 genome.wustl.edu 37 13 46585554 46585554 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 13 46585554 46585554 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.584 p.K195fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 128 0 0 88 12 12 USP8 0 genome.wustl.edu 37 15 50773879 50773880 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 50773879 50773880 - A INS USP8 ENST00000307179 human ensembl 74_37 +1 known frame_shift_ins c.1420_1421 p.N476fs 1.000:1.000 NULL pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 54 0 0 72 11 13.253 CTSH 0 genome.wustl.edu 37 15 79215392 79215392 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 79215392 79215392 T - DEL CTSH ENST00000220166 human ensembl 74_37 -1 known frame_shift_del c.875 p.N292fs 0.197 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 76 0 0 63 7 10 SCAND2P 0 genome.wustl.edu 37 15 85177820 85177820 + RNA DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 15 85177820 85177820 A - DEL SCAND2P ENST00000427525 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SCAND2P HGNC ENSG00000176700 80 0 0 80 15 15.7895 ABCC1 0 genome.wustl.edu 37 16 16142119 16142120 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 16142119 16142120 - C INS ABCC1 ENST00000399408 human ensembl 74_37 +1 known frame_shift_ins c.1339_1340 p.L449fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 202 0 0 142 23 13.9394 MAZ 0 genome.wustl.edu 37 16 29821439 29821444 + In_Frame_Del DEL GCGGCA GCGGCA - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 GCGGCA GCGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 29821439 29821444 GCGGCA - DEL MAZ ENST00000322945 human ensembl 74_37 +1 known in_frame_del c.1321_1326 p.AA444in_frame_del 0.366:0.356:0.234:0.236:0.231:0.032 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 55 0 0 55 6 9.83607 PLA2G15 0 genome.wustl.edu 37 16 68289855 68289855 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 16 68289855 68289855 G - DEL PLA2G15 ENST00000219345 human ensembl 74_37 +1 known frame_shift_del c.689 p.G232fs 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 59 0 0 50 9 15.2542 MYOCD 0 genome.wustl.edu 37 17 12656495 12656495 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 12656495 12656495 C - DEL MYOCD ENST00000425538 human ensembl 74_37 +1 known frame_shift_del c.1890 p.Q632fs 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 278 0 0 256 19 6.90909 NF1 0 genome.wustl.edu 37 17 29553477 29553478 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 29553477 29553478 - C INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.2026_2027 p.I679fs 0.997:0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 86 0 0 84 5 5.61798 SEC14L1 0 genome.wustl.edu 37 17 75189591 75189591 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 75189591 75189591 A - DEL SEC14L1 ENST00000392476 human ensembl 74_37 +1 known frame_shift_del c.434 p.I147fs 1.000 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 85 0 0 76 15 16.4835 EFNB3 0 genome.wustl.edu 37 17 7612525 7612525 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 17 7612525 7612525 C - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.654 p.L220fs 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 134 0 0 102 11 9.73451 ZNF20 0 genome.wustl.edu 37 19 12243915 12243916 + Frame_Shift_Ins INS - - GT TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 12243915 12243916 - GT INS ZNF20 ENST00000334213 human ensembl 74_37 -1 known frame_shift_ins c.1086_1085 p.E363fs 0.997:1.000 pfscan_Znf_C2H2 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF20 HGNC ENSG00000132010 75 0 0 74 12 13.9535 ZNF626 0 genome.wustl.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 20808338 20808338 T - DEL ZNF626 ENST00000601440 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 172 1 0.578035 128 27 17.4194 LMTK3 0 genome.wustl.edu 37 19 49000732 49000732 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 49000732 49000732 G - DEL LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_del c.3681 p.K1228fs 0.998 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 87 0 0 66 7 9.58904 ZIM3 0 genome.wustl.edu 37 19 57646554 57646555 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 57646554 57646555 - T INS ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_ins c.1151_1150 p.I384fs 0.814:0.890 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 201 0 0 201 24 10.6667 DENND1C 0 genome.wustl.edu 37 19 6467915 6467916 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 19 6467915 6467916 - C INS DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_ins c.2006_2005 p.D669fs 0.001:0.002 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 43 0 0 33 7 17.5 CERS6 0 genome.wustl.edu 37 2 169487547 169487547 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 169487547 169487547 A - DEL CERS6 ENST00000392687 human ensembl 74_37 +1 known frame_shift_del c.460 p.K155fs 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 175 0 0 179 14 7.25389 BZW1 0 genome.wustl.edu 37 2 201683505 201683505 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 201683505 201683505 A - DEL BZW1 ENST00000409600 human ensembl 74_37 +1 known frame_shift_del c.847 p.N285fs 1.000 superfamily_ARM-type_fold pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 89 0 0 91 8 8.08081 MAP2 0 genome.wustl.edu 37 2 210561666 210561667 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 210561666 210561667 - A INS MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_ins c.4413_4414 p.T1473fs 1.000:1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 79 0 0 51 7 12.069 DIS3L2 0 genome.wustl.edu 37 2 233194613 233194613 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 233194613 233194613 C - DEL DIS3L2 ENST00000325385 human ensembl 74_37 +1 known frame_shift_del c.1830 p.P612fs 1.000 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 79 0 0 57 10 14.9254 BCL11A 0 genome.wustl.edu 37 2 60689253 60689254 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 60689253 60689254 - G INS BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_ins c.794_793 p.L265fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 88 0 0 94 12 11.3208 AFTPH 0 genome.wustl.edu 37 2 64778860 64778861 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 2 64778860 64778861 - A INS AFTPH ENST00000422803 human ensembl 74_37 +1 known frame_shift_ins c.252_253 p.N85fs 1.000:1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 81 0 0 78 12 13.3333 PTPRT 0 genome.wustl.edu 37 20 40739003 40739003 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 40739003 40739003 G - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3281 p.P1094fs 0.991 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 83 0 0 58 8 12.1212 TP53RK 0 genome.wustl.edu 37 20 45315634 45315634 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 45315634 45315634 G - DEL TP53RK ENST00000372114 human ensembl 74_37 -1 known frame_shift_del c.520 p.L174fs 0.000 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 - no_errors TP53RK HGNC ENSG00000172315 205 1 0.485437 160 26 13.9785 PMEPA1 0 genome.wustl.edu 37 20 56227348 56227349 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 20 56227348 56227349 - G INS PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_ins c.625_624 p.S208fs 1.000:0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 102 0 0 73 13 15.1163 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 21 33074655 33074655 T - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 88 0 0 83 9 9.78261 MED15 0 genome.wustl.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 20918916 20918918 CAG - DEL MED15 ENST00000263205 human ensembl 74_37 +1 known in_frame_del c.631_633 p.Q214in_frame_del 0.552:0.544:0.569 pfam_Mediator_Med15_met pfam_Mediator_Med15_met - no_errors MED15 HGNC ENSG00000099917 43 0 0 28 7 20 RABL2B 0 genome.wustl.edu 37 22 51207224 51207226 + In_Frame_Del DEL CCT CCT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 22 51207224 51207226 CCT - DEL RABL2B ENST00000354869 human ensembl 74_37 -1 known in_frame_del c.670_668 p.E223in_frame_del 0.000:0.002:0.002 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2B HGNC ENSG00000079974 149 0 0 127 11 7.97101 ATR 0 genome.wustl.edu 37 3 142268410 142268411 + Frame_Shift_Del DEL TC TC - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 142268410 142268411 TC - DEL ATR ENST00000350721 human ensembl 74_37 -1 known frame_shift_del c.3082_3081 p.E1027fs 1.000:1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 40 0 0 49 8 14.0351 PBX2P1 0 genome.wustl.edu 37 3 142895155 142895155 + RNA DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 142895155 142895155 C - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.064 - - - no_errors PBX2P1 HGNC ENSG00000244171 10 0 0 5 5 50 NR2C2 0 genome.wustl.edu 37 3 15084406 15084406 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 15084406 15084406 T - DEL NR2C2 ENST00000323373 human ensembl 74_37 +1 known frame_shift_del c.1739 p.F582fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 67 0 0 75 8 9.63855 MB21D2 0 genome.wustl.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 192517004 192517004 T - DEL MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_del c.647 p.N216fs 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 183 0 0 183 16 8.0402 ACAP2 0 genome.wustl.edu 37 3 195063306 195063306 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 195063306 195063306 T - DEL ACAP2 ENST00000326793 human ensembl 74_37 -1 known frame_shift_del c.422 p.N141fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP2 HGNC ENSG00000114331 96 0 0 107 9 7.75862 ZNF385D 0 genome.wustl.edu 37 3 21478596 21478597 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 21478596 21478597 - T INS ZNF385D ENST00000281523 human ensembl 74_37 -1 known frame_shift_ins c.539_538 p.S180fs 0.988:0.978 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 213 0 0 230 20 8 EPM2AIP1 0 genome.wustl.edu 37 3 37034460 37034460 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 37034460 37034460 C - DEL EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known frame_shift_del c.109 p.A37fs 0.914 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 83 0 0 112 7 5.88235 MLH1 0 genome.wustl.edu 37 3 37053348 37053348 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 37053348 37053348 A - DEL MLH1 ENST00000231790 human ensembl 74_37 +1 known frame_shift_del c.583 p.K196fs 1.000 superfamily_HATPase_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 394 0 0 401 47 10.4911 DLEC1 0 genome.wustl.edu 37 3 38104191 38104191 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 38104191 38104191 T - DEL DLEC1 ENST00000346219 human ensembl 74_37 +1 known frame_shift_del c.993 p.P334fs 0.288 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 125 0 0 136 15 9.93377 ZNF197 0 genome.wustl.edu 37 3 44684226 44684226 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 44684226 44684226 A - DEL ZNF197 ENST00000344387 human ensembl 74_37 +1 known frame_shift_del c.1604 p.K536fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 171 0 0 187 27 12.6168 ADAMTS9 0 genome.wustl.edu 37 3 64532503 64532503 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 64532503 64532503 G - DEL ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known frame_shift_del c.4995 p.S1666fs 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 126 0 0 128 14 9.85915 EPHA3 0 genome.wustl.edu 37 3 89468398 89468398 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 3 89468398 89468398 A - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.1932 p.E647fs 0.987 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 125 0 0 121 15 11.0294 CFI 0 genome.wustl.edu 37 4 110687927 110687927 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 110687927 110687927 T - DEL CFI ENST00000394634 human ensembl 74_37 -1 known frame_shift_del c.111 p.K37fs 0.482 NULL pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 128 1 0.775194 128 17 11.7241 TMA16 0 genome.wustl.edu 37 4 164428219 164428219 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 164428219 164428219 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.38 p.V16fs 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 25 0 0 18 7 28 ZBTB49 0 genome.wustl.edu 37 4 4303754 4303754 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 4303754 4303754 T - DEL ZBTB49 ENST00000337872 human ensembl 74_37 +1 known frame_shift_del c.191 p.H66fs 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 92 0 0 59 10 14.4928 PROL1 0 genome.wustl.edu 37 4 71275496 71275498 + In_Frame_Del DEL ACA ACA - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 71275496 71275498 ACA - DEL PROL1 ENST00000399575 human ensembl 74_37 +1 putative in_frame_del c.451_453 p.T152in_frame_del 0.000:0.002:0.000 NULL NULL - no_errors PROL1 HGNC ENSG00000171199 123 0 0 90 13 12.6214 PTPN13 0 genome.wustl.edu 37 4 87622607 87622607 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 4 87622607 87622607 A - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.848 p.K285fs 0.941 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 55 0 0 66 17 20.4819 APC 0 genome.wustl.edu 37 5 112176675 112176676 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 112176675 112176676 - A INS APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_ins c.5384_5385 p.N1797fs 0.990:0.921 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 50 0 0 42 12 22.2222 TCF7 0 genome.wustl.edu 37 5 133473765 133473765 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 133473765 133473765 C - DEL TCF7 ENST00000321584 human ensembl 74_37 +1 known frame_shift_del c.457 p.H155fs 1.000 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7 HGNC ENSG00000081059 127 0 0 130 17 11.5646 ZNF131 0 genome.wustl.edu 37 5 43173517 43173517 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 43173517 43173517 A - DEL ZNF131 ENST00000399534 human ensembl 74_37 +1 known frame_shift_del c.1152 p.G387fs 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 86 0 0 66 7 9.58904 BDP1 0 genome.wustl.edu 37 5 70766233 70766233 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 70766233 70766233 T - DEL BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_del c.931 p.L313fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 56 0 0 59 9 13.2353 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 168 0 0 150 23 13.2948 REV3L 0 genome.wustl.edu 37 6 111695299 111695299 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 111695299 111695299 A - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.4259 p.L1420fs 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 183 0 0 194 30 13.3929 PRELID1P1 0 genome.wustl.edu 37 6 126964717 126964717 + RNA DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 126964717 126964717 C - DEL PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 0.774 - - - no_errors PRELID1P1 HGNC ENSG00000217325 13 0 0 6 4 40 SOGA3 0 genome.wustl.edu 37 6 127794434 127794435 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 127794434 127794435 - A INS SOGA3 ENST00000368268 human ensembl 74_37 -1 known frame_shift_ins c.2836_2835 p.V945fs 1.000:1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 80 0 0 57 7 10.9375 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 139097330 139097330 A - DEL CCDC28A ENST00000332797 human ensembl 74_37 +1 known frame_shift_del c.343 p.N117fs 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 81 0 0 85 20 19.0476 DTNBP1 0 genome.wustl.edu 37 6 15638037 15638038 + Splice_Site INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 15638037 15638038 - A INS DTNBP1 ENST00000355917 human ensembl 74_37 -1 known splice_site_ins c.162-3_162-2 e4-2 1.000:0.999 - - - no_errors DTNBP1 HGNC ENSG00000047579 142 0 0 135 9 6.25 HIST1H2BC 0 genome.wustl.edu 37 6 26123922 26123923 + Frame_Shift_Del DEL AT AT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 26123922 26123923 AT - DEL HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known frame_shift_del c.211_210 p.F71fs 1.000:1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 262 0 0 228 29 11.284 HIST1H1D 0 genome.wustl.edu 37 6 26234932 26234932 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 26234932 26234932 T - DEL HIST1H1D ENST00000244534 human ensembl 74_37 -1 known frame_shift_del c.230 p.N77fs 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 231 0 0 190 24 11.215 DNAH8 0 genome.wustl.edu 37 6 38831685 38831697 + Frame_Shift_Del DEL AGTTTAACAGAAT AGTTTAACAGAAT - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 AGTTTAACAGAAT AGTTTAACAGAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 38831685 38831697 AGTTTAACAGAAT - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.5696_5708 p.E1899fs 1.000:1.000:1.000:1.000:0.995:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 146 0 0 133 8 5.67376 SRF 0 genome.wustl.edu 37 6 43143662 43143663 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 43143662 43143663 - G INS SRF ENST00000265354 human ensembl 74_37 +1 known frame_shift_ins c.999_1000 p.L335fs 0.858:1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 75 0 0 60 6 9.09091 ENPP4 0 genome.wustl.edu 37 6 46107942 46107942 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 46107942 46107942 A - DEL ENPP4 ENST00000321037 human ensembl 74_37 +1 known frame_shift_del c.622 p.I210fs 0.950 pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 109 0 0 99 15 13.1579 F13A1 0 genome.wustl.edu 37 6 6266965 6266965 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 6266965 6266965 C - DEL F13A1 ENST00000264870 human ensembl 74_37 -1 known frame_shift_del c.397 p.A133fs 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 123 0 0 104 14 11.8644 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 109 0 0 87 13 13 LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 67 0 0 51 8 13.5593 HNRNPA2B1 0 genome.wustl.edu 37 7 26236525 26236526 + Frame_Shift_Ins INS - - T TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 26236525 26236526 - T INS HNRNPA2B1 ENST00000354667 human ensembl 74_37 -1 known frame_shift_ins c.413_412 p.I138fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA2B1 HGNC ENSG00000122566 209 0 0 178 23 11.4428 FIGNL1 0 genome.wustl.edu 37 7 50514060 50514060 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 50514060 50514060 T - DEL FIGNL1 ENST00000356889 human ensembl 74_37 -1 known frame_shift_del c.926 p.K309fs 0.976 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 98 0 0 111 11 9.01639 TRRAP 0 genome.wustl.edu 37 7 98567888 98567889 + Frame_Shift_Ins INS - - G TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 7 98567888 98567889 - G INS TRRAP ENST00000359863 human ensembl 74_37 +1 known frame_shift_ins c.7645_7646 p.E2550fs 1.000:1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 115 0 0 112 7 5.88235 RGS22 0 genome.wustl.edu 37 8 101092539 101092539 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 101092539 101092539 A - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 52 0 0 54 6 10 RIMS2 0 genome.wustl.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 104927779 104927779 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1869 p.G626fs 0.009 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 53 0 0 70 13 15.6627 ZHX2 0 genome.wustl.edu 37 8 123965544 123965545 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 123965544 123965545 - A INS ZHX2 ENST00000314393 human ensembl 74_37 +1 known frame_shift_ins c.1794_1795 p.G600fs 1.000:1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 101 0 0 87 9 9.375 ZNF623 0 genome.wustl.edu 37 8 144732382 144732383 + Frame_Shift_Ins INS - - AG TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 144732382 144732383 - AG INS ZNF623 ENST00000501748 human ensembl 74_37 +1 known frame_shift_ins c.340_341 p.L117fs 0.992:0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 160 0 0 197 25 11.2613 ZNF395 0 genome.wustl.edu 37 8 28210809 28210809 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 28210809 28210809 G - DEL ZNF395 ENST00000344423 human ensembl 74_37 -1 known frame_shift_del c.700 p.H234fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 84 0 0 99 7 6.60377 PRKDC 0 genome.wustl.edu 37 8 48694762 48694762 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 48694762 48694762 A - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.11447 p.L3816fs 0.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 152 0 0 109 7 6.03448 SULF1 0 genome.wustl.edu 37 8 70488249 70488249 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 8 70488249 70488249 G - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.217 p.A75fs 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 53 0 0 47 7 12.963 COL15A1 0 genome.wustl.edu 37 9 101748037 101748038 + Frame_Shift_Ins INS - - A TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 101748037 101748038 - A INS COL15A1 ENST00000375001 human ensembl 74_37 +1 known frame_shift_ins c.291_292 p.P98fs 0.949:0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 91 0 0 53 5 8.62069 IKBKAP 0 genome.wustl.edu 37 9 111681574 111681575 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 111681574 111681575 - C INS IKBKAP ENST00000374647 human ensembl 74_37 -1 known frame_shift_ins c.608_607 p.D203fs 1.000:1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 58 0 0 38 6 13.6364 MPDZ 0 genome.wustl.edu 37 9 13125277 13125277 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 13125277 13125277 T - DEL MPDZ ENST00000319217 human ensembl 74_37 -1 known frame_shift_del c.4745 p.K1582fs 0.029 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 150 0 0 159 18 10.1695 DOLK 0 genome.wustl.edu 37 9 131708196 131708196 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 131708196 131708196 C - DEL DOLK ENST00000372586 human ensembl 74_37 -1 known frame_shift_del c.1387 p.E463fs 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 149 0 0 152 18 10.5882 PPP1R26 0 genome.wustl.edu 37 9 138376947 138376947 + Frame_Shift_Del DEL C C - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 138376947 138376947 C - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.591 p.G199fs 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 139 0 0 150 14 8.53659 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 114 0 0 103 17 14.1667 TAF1L 0 genome.wustl.edu 37 9 32632794 32632794 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 9 32632794 32632794 A - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.2784 p.F928fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 200 0 0 132 25 15.9236 GPR112 0 genome.wustl.edu 37 X 135488065 135488065 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 135488065 135488065 T - DEL GPR112 ENST00000370652 human ensembl 74_37 +1 known frame_shift_del c.8869 p.F2958fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 165 0 0 165 43 20.6731 HDAC6 0 genome.wustl.edu 37 X 48681900 48681901 + Frame_Shift_Ins INS - - C TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 48681900 48681901 - C INS HDAC6 ENST00000444343 human ensembl 74_37 +1 known frame_shift_ins c.3133_3134 p.T1048fs 0.328:0.014 NULL pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 20 0 0 15 4 21.0526 SPIN3 0 genome.wustl.edu 37 X 57020676 57020676 + Frame_Shift_Del DEL T T - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 X 57020676 57020676 T - DEL SPIN3 ENST00000374919 human ensembl 74_37 -1 known frame_shift_del c.705 p.K235fs 0.995 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN3 HGNC ENSG00000204271 51 0 0 66 10 13.1579 PCDH11Y 0 genome.wustl.edu 37 Y 4967616 4967616 + Frame_Shift_Del DEL A A - TCGA-BR-6802-01A-11D-1882-08 TCGA-BR-6802-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d3725a6f-6ed6-4b8d-8d69-091058167abd 1f579d9f-6205-4095-a016-35ac9bd25f07 Y 4967616 4967616 A - DEL PCDH11Y ENST00000215473 human ensembl 74_37 +1 known frame_shift_del c.1997 p.K667fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 83 0 0 87 5 5.43478